Mariasavina Severino (M Severino, M S Severino)

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 91

Top Topics

Intellectual Disability

Botulinum Toxin

Top Venues

Brain : a journal of neurology

AJNR. American journal of neuroradiology

This page only lists publications with an associated author ORCID identifier.

Publications

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Gabriel N Aughey, Elisa Cali, Reza Maroofian, Maha S Zaki, Alistair T Pagnamenta, Fatima Rahman, Lara Menzies, Anum Shafique, Mohnish Suri, Emmanuel Roze, Mohammed Aguennouz, Zouiri Ghizlane, Saadia Maryam Saadi, Zafar Ali, Uzma Abdulllah, Huma Arshad Cheema, Muhammad Nadeem Anjum, Godelieve Morel, Robert McFarland, Umut Altunoglu, Verena Kraus, Moneef Shoukier, David Murphy, Kristina Flemming, Hilde Yttervik, Hajar Rhouda, Gaetan Lesca, Bibi Nazia Murtaza, Mujaddad Ur Rehman, null null, Genomics England Consortium, Go Hun Seo, Christian Beetz, Hülya Kayserili, Yamna Krioulie, Wendy K Chung, Sadaf Naz, Shazia Maqbool, Joseph Gleeson, Shahid Mahmood Baig, Stephanie Efthymiou, Jenny C Taylor, Mariasavina Severino, James Ec Jepson, Henry Houlden
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. medRxiv : the preprint server for health sciences (2024)
Paolo Massirio, Marcella Battaglini, Irene Bonato, Sara De Crescenzo, Maria Grazia Calevo, Mariya Malova, Samuele Caruggi, Alessandro Parodi, Deborah Preiti, Agata Zoia, Sara Uccella, Domenico Tortora, Mariasavina Severino, Andrea Rossi, Cristina Traggiai, Lino Nobili, Pasquale Striano, Luca Antonio Ramenghi
Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2-3-Year Neurodevelopmental Outcome. Nutrients 16 (3) (2024)
Costanza B Parodi, Margherita Aluffi Valletti, Domenico Tortora, Silvia Buratti, Marisa F Mallamaci, Giulia Tuo, Angela Pistorio, Andrea Moscatelli, Andrea Rossi, Mariasavina Severino, null null
Vein of Galen aneurysmal malformation: does size affect outcome? Neuroradiology (2024)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha Saad Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily G Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology 147 (5) (2024)
Judy Chen, Alexander Ngo, Raul Rodriguez-Cruces, Jessica Royer, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Clarissa Lin Yasuda, Marina K M Alvim, Leonardo Bonilha, Ezequiel L Gleichgerrcht, Niels K Focke, Barbara A K Kreilkamp, Martin Domin, Felix von Podewils, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Kotikalapudi Raviteja, Benjamin Bender, Terence J O'Brien, Benjamin Sinclair, Lucy E Vivash, Patrick Kwan, Patricia M Desmond, Elaine H Lui, Gian Marco Duma, Paolo Bonanni, Alice Ballerini, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P Doherty, Gianpiero L Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys Huw Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Matteo Lenge, Renzo Guerrini, Emanuele Bartolini, Khalid Hamandi, Sonya F Foley, Theodor Ruber, Tobias Bauer, Bernd Weber, Benoit Caldairou, Chantal Depondt, Julie Absil, Sarah J A Carr, Eugenio Abela, Mark P Richardson, Orrin Devinsky, Heath R Pardoe, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N Hatton, Donatello Arienzo, Sjoerd B Vos, Mina Ryten, Peter Neal Taylor, John Sidney Duncan, Christopher D Whelan, Marian Galovic, Gavin P Winston, Sophia I Thomopoulos, Paul M Thompson, Sanjay M Sisodiya, Angelo Labate, Carrie R McDonald, Lorenzo Caciagli, Neda Bernasconi, Andrea Bernasconi, Sara Lariviere, Dewi Schrader, Boris C Bernhardt
A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan. bioRxiv : the preprint server for biology (2024)
Carolina Saffioti, Marta Nebiolo, Roberta Caorsi, Alessio Mesini, Mariasavina Severino, Giacomo Brisca, Elio Castagnola, Marco Gattorno
Whipple Disease Presenting as Isolated Transverse Myelitis with Permanent Neurological Damage in a Patient with Systemic Lupus Erythematosus: A Case Report of a Difficult Diagnosis with a Literature Review. Infectious disease reports 16 (2) (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Eric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology 147 (5) (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia (2024)
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders. Brain : a journal of neurology 147 (8) (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia (2024)
Paolo Massirio, Marcella Battaglini, Irene Bonato, Sara De Crescenzo, Maria Grazia Calevo, Mariya Malova, Samuele Caruggi, Alessandro Parodi, Deborah Preiti, Agata Zoia, Sara Uccella, Domenico Tortora, Mariasavina Severino, Andrea Rossi, Cristina Traggiai, Lino Nobili, Pasquale Striano, Luca Antonio Ramenghi
Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2-3-Year Neurodevelopmental Outcome. Nutrients 16 (3) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Carolina Saffioti, Marta Nebiolo, Roberta Caorsi, Alessio Mesini, Mariasavina Severino, Giacomo Brisca, Elio Castagnola, Marco Gattorno
Whipple Disease Presenting as Isolated Transverse Myelitis with Permanent Neurological Damage in a Patient with Systemic Lupus Erythematosus: A Case Report of a Difficult Diagnosis with a Literature Review. Infectious disease reports 16 (2) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Eric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology 147 (5) (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia 65 (4) (2024)
Carolina Saffioti, Marta Nebiolo, Roberta Caorsi, Alessio Mesini, Mariasavina Severino, Giacomo Brisca, Elio Castagnola, Marco Gattorno
Whipple Disease Presenting as Isolated Transverse Myelitis with Permanent Neurological Damage in a Patient with Systemic Lupus Erythematosus: A Case Report of a Difficult Diagnosis with a Literature Review. Infectious disease reports 16 (2) (2024)
Ivana Pogledic, Kshitij Mankad, Mariasavina Severino, Tally Lerman-Sagie, András Jakab, Efrat Hadi, Anna C Jansen, Nadia Bahi-Buisson, Natalya Di Donato, Renske Oegema, Christian Mitter, Ivan Capo, Matthew T Whitehead, Parthiv Haldipur, Grazia Maria Simonetta Mancini, Thierry A G M Huisman, Andrea Righini, William B Dobyns, James A Barkovich, Natasa Jovanov Milosevic, Gregor J Kasprian, Maarten Lequin
Prenatal assessment of brain malformations on neuroimaging: an expert panel review. Brain : a journal of neurology (2024)
Paolo Massirio, Marcella Battaglini, Irene Bonato, Sara De Crescenzo, Maria Grazia Calevo, Mariya Malova, Samuele Caruggi, Alessandro Parodi, Deborah Preiti, Agata Zoia, Sara Uccella, Domenico Tortora, Mariasavina Severino, Andrea Rossi, Cristina Traggiai, Lino Nobili, Pasquale Striano, Luca Antonio Ramenghi
Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2-3-Year Neurodevelopmental Outcome. Nutrients 16 (3) (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia 65 (4) (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Eric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology 147 (5) (2024)
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders. Brain : a journal of neurology (2024)
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders. Brain : a journal of neurology 147 (8) (2024)
Costanza B Parodi, Margherita Aluffi Valletti, Domenico Tortora, Silvia Buratti, Marisa F Mallamaci, Giulia Tuo, Angela Pistorio, Andrea Moscatelli, Andrea Rossi, Mariasavina Severino, null null
Vein of Galen aneurysmal malformation: does size affect outcome? Neuroradiology 66 (6) (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Eric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia 65 (4) (2024)
Costanza B Parodi, Margherita Aluffi Valletti, Domenico Tortora, Silvia Buratti, Marisa F Mallamaci, Giulia Tuo, Angela Pistorio, Andrea Moscatelli, Andrea Rossi, Mariasavina Severino, null null
Vein of Galen aneurysmal malformation: does size affect outcome? Neuroradiology 66 (6) (2024)
Judy Chen, Alexander Ngo, Raul Rodriguez-Cruces, Jessica Royer, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Clarissa Lin Yasuda, Marina K M Alvim, Leonardo Bonilha, Ezequiel L Gleichgerrcht, Niels K Focke, Barbara A K Kreilkamp, Martin Domin, Felix von Podewils, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Kotikalapudi Raviteja, Benjamin Bender, Terence J O'Brien, Benjamin Sinclair, Lucy E Vivash, Patrick Kwan, Patricia M Desmond, Elaine H Lui, Gian Marco Duma, Paolo Bonanni, Alice Ballerini, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P Doherty, Gianpiero L Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys Huw Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Matteo Lenge, Renzo Guerrini, Emanuele Bartolini, Khalid Hamandi, Sonya F Foley, Theodor Ruber, Tobias Bauer, Bernd Weber, Benoit Caldairou, Chantal Depondt, Julie Absil, Sarah J A Carr, Eugenio Abela, Mark P Richardson, Orrin Devinsky, Heath R Pardoe, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N Hatton, Donatello Arienzo, Sjoerd B Vos, Mina Ryten, Peter Neal Taylor, John Sidney Duncan, Christopher D Whelan, Marian Galovic, Gavin P Winston, Sophia I Thomopoulos, Paul M Thompson, Sanjay M Sisodiya, Angelo Labate, Carrie R McDonald, Lorenzo Caciagli, Neda Bernasconi, Andrea Bernasconi, Sara Lariviere, Dewi Schrader, Boris C Bernhardt
A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN. bioRxiv : the preprint server for biology (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia 65 (4) (2024)
Costanza B Parodi, Margherita Aluffi Valletti, Domenico Tortora, Silvia Buratti, Marisa F Mallamaci, Giulia Tuo, Angela Pistorio, Andrea Moscatelli, Andrea Rossi, Mariasavina Severino, null null
Vein of Galen aneurysmal malformation: does size affect outcome? Neuroradiology 66 (6) (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia 65 (4) (2024)
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders. Brain : a journal of neurology 147 (8) (2024)
Paolo Massirio, Marcella Battaglini, Irene Bonato, Sara De Crescenzo, Maria Grazia Calevo, Mariya Malova, Samuele Caruggi, Alessandro Parodi, Deborah Preiti, Agata Zoia, Sara Uccella, Domenico Tortora, Mariasavina Severino, Andrea Rossi, Cristina Traggiai, Lino Nobili, Pasquale Striano, Luca Antonio Ramenghi
Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2-3-Year Neurodevelopmental Outcome. Nutrients 16 (3) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia (2024)
Paolo Massirio, Marcella Battaglini, Irene Bonato, Sara De Crescenzo, Maria Grazia Calevo, Mariya Malova, Samuele Caruggi, Alessandro Parodi, Deborah Preiti, Agata Zoia, Sara Uccella, Domenico Tortora, Mariasavina Severino, Andrea Rossi, Cristina Traggiai, Lino Nobili, Pasquale Striano, Luca Antonio Ramenghi
Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2-3-Year Neurodevelopmental Outcome. Nutrients 16 (3) (2024)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John S Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas S Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. Epilepsia 65 (4) (2024)
Asthik Biswas, Cillian McNamara, Vykuntaraju K Gowda, Foram B Gala, Sniya Valsa Sudhakar, Jai Sidpra, M S Vari, Pasquale Striano, Susan I Blaser, Mariasavina Severino, Spyros Batzios, Kshitij Mankad
Neuroimaging Features of Biotinidase Deficiency. AJNR. American journal of neuroradiology 44 (3) (2023)
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo P Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert V V Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Aslanger Ayça Dilruba, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain : a journal of neurology (2023)
Àlex Rovira, Fabio Martino Doniselli, Cristina Auger, Lukas Haider, Jerome Hodel, Mariasavina Severino, Mike P Wattjes, Aart J van der Molen, Bas Jasperse, Carlo Augusto Mallio, Tarek Yousry, Carlo Cosimo Quattrocchi, null null
Use of gadolinium-based contrast agents in multiple sclerosis: a review by the ESMRMB-GREC and ESNR Multiple Sclerosis Working Group. European radiology (2023)
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology (2023)
Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano
Refining the electro-clinical spectrum of NPRL3-related epilepsy: a novel multiplex family and literature review. Epilepsia open (2023)
Asthik Biswas, Cillian McNamara, Vykuntaraju K Gowda, Foram B Gala, Sniya Valsa Sudhakar, Jai Sidpra, M S Vari, Pasquale Striano, Susan I Blaser, Mariasavina Severino, Spyros Batzios, Kshitij Mankad
Neuroimaging Features of Biotinidase Deficiency. AJNR. American journal of neuroradiology 44 (3) (2023)
Nevena Fileva, Mariasavina Severino, Domenico Tortora, Antonia Ramaglia, Dario Paladini, Andrea Rossi
Second trimester fetal MRI of the brain: Through the ground glass. Journal of clinical ultrasound : JCU 51 (2) (2023)
Andrea Accogli, Maha S Zaki, Mohammed Al-Owain, Mansour Y Otaif, Adam Jackson, Emanuela Argilli, Kate E Chandler, Christian G E L De Goede, Tülün Cora, Javeria Raza Alvi, Atieh Eslahi, Mahsa Sadat Asl Mohajeri, Setareh Ashtiani, P Y Billie Au, Alicia Scocchia, Kirsi Alakurtti, Alistair T Pagnamenta, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Majid Mojarrad, Fatemeh Arab, Fahrettin Duymuş, Morris H Scantlebury, Gözde Yeşil, Jill Anne Rosenfeld, Ayberk Türkyılmaz, Safiye Güneş Sağer, Tipu Sultan, Farah Ashrafzadeh, Tatheer Zahra, Fatima Rahman, Shazia Maqbool, Mohamed S Abdel-Hamid, Mahmoud Y Issa, Stephanie Efthymiou, Peter Bauer, Giovanni Zifarelli, Vincenzo Salpietro, Zuhair Al-Hassnan, Siddharth Banka, Elliot H Sherr, Joseph G Gleeson, Pasquale Striano, Henry Houlden, Mariasavina Severino, Reza Maroofian
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain communications 5 (5) (2023)
Asthik Biswas, Cillian McNamara, Vykuntaraju K Gowda, Foram B Gala, Sniya Valsa Sudhakar, Jai Sidpra, M S Vari, Pasquale Striano, Susan I Blaser, Mariasavina Severino, Spyros Batzios, Kshitij Mankad
Neuroimaging Features of Biotinidase Deficiency. AJNR. American journal of neuroradiology (2023)
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Guarav K Varshney, Henry Houlden, Reza Maroofian
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain : a journal of neurology (2023)
Rebecca Kerestes, Andrew Perry, Lucy E Vivash, Terence J O'Brien, Marina K M Alvim, Donatello Arienzo, Ítalo K Aventurato, Alice Ballerini, Gabriel F Baltazar, Núria Bargalló, Benjamin Bender, Ricardo Brioschi, Eva Bürkle, Maria Eugenia Caligiuri, Fernando Cendes, Jane de Tisi, John Sidney Duncan, Jerome P Engel, Sonya Foley, Francesco Fortunato, Antonio Gambardella, Thea Giacomini, Renzo Guerrini, Gerard R Hall, Khalid Hamandi, Victoria Ives-Deliperi, Rafael B João, Simon S Keller, Benedict Kleiser, Angelo Labate, Matteo Lenge, Cassandra Marotta, Pascal Martin, Mario Mascalchi, Stefano Meletti, Conor Owens-Walton, Costanza B Parodi, Saül Pascual-Diaz, David Powell, Jun Rao, Michael Rebsamen, Johannes T Reiter, Antonella Riva, Theodor Ruber, Christian Rummel, Freda Scheffler, Mariasavina Severino, Lucas Scárdua Silva, Richard J Staba, Dan J Stein, Pasquale Striano, Peter N Taylor, Sophia I Thomopoulos, Paul M Thompson, Domenico Tortora, Anna Elisabetta Vaudano, Bernd Weber, Roland Wiest, Gavin P Winston, Clarissa L Yasuda, Hong Zheng, Carrie R McDonald, Sanjay M Sisodiya, Ian H Harding, null null
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. bioRxiv : the preprint server for biology (2023)
Jenny Wright, Moira Shang-Mei Cheung, Ata Siddiqui, Jonathan Lucas, Alistair D Calder, Maria I Argyropoulou, Owen John Arthurs, Pablo Caro-Domínguez, Dominic Thompson, Mariasavina Severino, Felice D'Arco, null null, null null
Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper. Pediatric radiology (2023)
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna-Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan Sami Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain : a journal of neurology 145 (7) (2022)
Ana Filipa Geraldo, César Augusto Pinheiro Ferreira Alves, Aysha Luis, Domenico Tortora, Joana Guimarães, Daisy Abreu, Sofia Reimão, Marco Pavanello, Patrizia de Marco, Marcello Scala, Valeria Capra, Rui Vaz, Andrea Rossi, Erin Simon Schwartz, Kshitij Mankad, Mariasavina Severino
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study. Neuroradiology (2022)
Mariasavina Severino, Domenico Tortora, Catriona E L Reid, Sara Uccella, Lino Nobili, Andrea Accogli, Myriam Srour, Antonia Ramaglia, Sniya Sudhakar, Alessandro Consales, Marco Pavanello, Gianluca Piatelli, Greg James, Marcello Ravegnani, Andrea Rossi, Kshitij Mankad
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts. Neuroradiology 64 (11) (2022)
Silvia Boeri, Marina Martinez Popple, Thea Giacomini, Tommaso Bellini, Mariasavina Severino, Andrea Rossi, Carla Debbia, Silvana Ancona, Elena Aldera, Lino Nobili, Laura Siri
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report. Neuropediatrics 54 (1) (2022)
Silvia Boeri, Marina Martinez Popple, Thea Giacomini, Tommaso Bellini, Mariasavina Severino, Andrea Rossi, Carla Debbia, Silvana Ancona, Elena Aldera, Lino Nobili, Laura Siri
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report. Neuropediatrics 54 (1) (2022)
Giulia Amico, Wayne O Hemphill, Mariasavina Severino, Claudio Moratti, Rosario Pascarella, Marta Bertamino, Flavia Napoli, Stefano Volpi, Francesca Rosamilia, Sara Signa, Fred Perrino, Maria Luisa Zedde, Isabella Ceccherini, null On Behalf Of The Gaslini Stroke Study Group
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core. Genes 13 (7) (2022)
Carolina Saffioti, Alessio Mesini, Roberta Caorsi, Mariasavina Severino, Marco Gattorno, Elio Castagnola
Balamuthia mandrillaris infection: report of 1st autochthonous, fatal case in Italy. European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology 41 (4) (2022)
Marco Scaglione, Flavia Napoli, Giulia Prato, Mariasavina Severino, Marta Bertamino, Sara Signa, Mohamad Maghnie
An Atypical Case of Aphasia: Transitory Ischemic Attack in a 13-Year-Old Patient with Asymptomatic SARS-CoV-2 Infection. Children (Basel, Switzerland) 9 (7) (2022)
Silvia Boeri, Marina Martinez Popple, Thea Giacomini, Tommaso Bellini, Mariasavina Severino, Andrea Rossi, Carla Debbia, Silvana Ancona, Elena Aldera, Lino Nobili, Laura Siri
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report. Neuropediatrics (2022)
Hannah Spitzer, Mathilde Ripart, Kirstie Whitaker, Felice D'Arco, Kshitij Mankad, Andrew A Chen, Antonio Napolitano, Luca De Palma, Alessandro De Benedictis, Stephen Foldes, Zachary Humphreys, Kai Zhang, Wenhan Hu, Jiajie Mo, Marcus Likeman, Shirin Davies, Christopher Güttler, Matteo Lenge, Nathan T Cohen, Yingying Tang, Shan Wang, Aswin Chari, Martin M Tisdall, Nuria Bargallo, Estefanía Conde-Blanco, Jose Carlos Pariente, Saül Pascual-Diaz, Ignacio Delgado-Martínez, Carmen Pérez-Enríquez, Ilaria Lagorio, Eugenio Abela, Nandini Mullatti, Jonathan O'Muircheartaigh, Katy Vecchiato, Yawu Liu, Maria Eugenia Caligiuri, Ben Sinclair, Lucy Vivash, Anna Willard, Jothy Kandasamy, Ailsa McLellan, Drahoslav Sokol, Mira Semmelroch, Ane G Kloster, Giske Opheim, Letícia Ribeiro, Clarissa Yasuda, Camilla Rossi-Espagnet, Khalid Hamandi, Anna Tietze, Carmen Barba, Renzo Guerrini, William Davis Gaillard, Xiaozhen You, Irene Wang, Sofía González-Ortiz, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Reetta Kälviäinen, Antonio Gambardella, Angelo Labate, Patricia Desmond, Elaine Lui, Terence O'Brien, Jay Shetty, Graeme Jackson, John Sidney Duncan, Gavin P Winston, Lars H Pinborg, Fernando Cendes, Fabian J Theis, Russell T Shinohara, J Helen Cross, Torsten Baldeweg, Sophie Adler, Konrad Wagstyl
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study. Brain : a journal of neurology 145 (11) (2022)
Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, null null, null null, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Caroline Racine
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain : a journal of neurology 145 (9) (2022)
Silvia Boeri, Marina Martinez Popple, Thea Giacomini, Tommaso Bellini, Mariasavina Severino, Andrea Rossi, Carla Debbia, Silvana Ancona, Elena Aldera, Lino Nobili, Laura Siri
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report. Neuropediatrics 54 (1) (2022)
Bo-Yong Park, Sara Lariviere, Raul Rodríguez-Cruces, Jessica Royer, Shahin Tavakol, Yezhou Wang, Lorenzo Caciagli, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Marina K M Alvim, Clarissa Yasuda, Leonardo Bonilha, Ezequiel L Gleichgerrcht, Niels K Focke, Barbara A K Kreilkamp, Martin Domin, Felix von Podewils, Soenke Langner, Christian Rummel, Michael Rebsamen, Roland Wiest, Pascal Martin, Raviteja Kotikalapudi, Benjamin Bender, Terence J O'Brien, Meng Law, Benjamin Sinclair, Lucy Vivash, Patrick Kwan, Patricia M Desmond, Charles B Malpas, Elaine Lui, Saud Alhusaini, Colin P Doherty, Gianpiero L Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys H Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Matteo Lenge, Renzo Guerrini, Emanuele Bartolini, Khalid Hamandi, Sonya Foley, Bernd Weber, Chantal Depondt, Julie Absil, Sarah J A Carr, Eugenio Abela, Mark P Richardson, Orrin Devinsky, Mariasavina Severino, Pasquale Striano, Costanza Parodi, Domenico Tortora, Sean N Hatton, Sjoerd B Vos, John Sidney Duncan, Marian Galovic, Christopher D Whelan, Núria Bargalló, Jose Pariente, Estefania Conde-Blanco, Anna Elisabetta Vaudano, Manuela Tondelli, Stefano Meletti, Xiang-Zhen Kong, Clyde Francks, Simon E Fisher, Benoit Caldairou, Mina Ryten, Angelo Labate, Sanjay M Sisodiya, Paul M Thompson, Carrie R McDonald, Andrea Bernasconi, Neda Bernasconi, Boris C Bernhardt
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy. Brain : a journal of neurology 145 (4) (2022)
Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Elisabetta Amadori, Anna Laura Torella, Michele Pinelli, Beth Hudson, Megan Boothe, Anna C E Hurst, Tawfeg Ben-Omran, Martin Jakob Larsen, Christina R Fagerberg, Lene Sperling, Ieva Miceikaite, Lucas Hérissant, Martine Doco-Fenzy, Mélanie Jennesson, Vincenzo Nigro, Pasquale Striano, Carlo Minetti, Rani K Sachdev, Emma Elizabeth Palmer, Valeria Capra, Philippe M Campeau
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. Clinical genetics 100 (5) (2021)
M Scarabello, Andrea Righini, Mariasavina Severino, Lorenzo Pinelli, Cecilia Parazzini, Elisa Scola, Giovanni Palumbo, Marco Di Maurizio, I D'Errico, Andrea Rossi, Fabio Triulzi, Paul D Griffiths
Ganglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases. AJNR. American journal of neuroradiology 42 (6) (2021)
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pierluigi Martelli, Ivana Matera, Isabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K Mishra, Yu-Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Pei-Chieng Cha, Yu-Ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson MacInnes, Mariel Alders, Marc Engelen, Gabor Linthorst, Tom de Koning, Wilfred den Dunnen, Gerard Dijkstra, Karin van Spaendonck, Dik C van Gent, Eleonora M Aronica, Paolo Picco, Valerio Carelli, Marco Seri, Nicholas Katsanis, Floor A M Duijkers, Mariko Taniguchi-Ikeda, Roberto De Giorgio
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain : a journal of neurology 144 (5) (2021)
Andrea Accogli, Stacy Goergen, Giana Izzo, Kshitij Mankad, Karina Krajden Haratz, Cecilia Parazzini, Michael Fahey, Lara Menzies, Júlia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Valerio Gaetano Vellone, Dario Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Liat Ben Sira, Adi Reches, Gustavo Malinger, Vincenzo Salpietro, Patrizia De Marco, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi, Mariasavina Severino
L1CAM variants cause two distinct imaging phenotypes on fetal MRI. Annals of clinical and translational neurology 8 (10) (2021)
Reza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, Marcello Scala, Khalid Hundallah, Mariasavina Severino, Mohamed S Abdel-Hamid, Jill Anne Rosenfeld, Darius Ebrahimi-Fakhari, Zahir Ali, Fazal Rahim, Henry Houlden, Sharon A Tooze, Norah S Alsaleh, Maha S Zaki
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Brain communications 3 (3) (2021)
Katia Perri, Letizia De Mori, Domenico Tortora, Maria Grazia Calevo, Anna Elsa Maria Allegri, Flavia Napoli, Giuseppa Patti, Daniela Fava, Marco Crocco, Maurizio Schiavone, Emilio Casalini, Mariasavina Severino, Andrea Rossi, Natascia Di Iorgi, Roberto Gastaldi, Mohamad Maghnie
Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders. The Journal of clinical endocrinology and metabolism 106 (10) (2021)
Ana Filipa Geraldo, Roberta Caorsi, Domenico Tortora, Carlo Gandolfo, R Ammendola, Maria Alessio, Giovanni Conti, A Insalaco, Serena Pastore, S Martino, Isabella Ceccherini, Sara Signa, Marco Gattorno, Andrea Rossi, Mariasavina Severino
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency. AJNR. American journal of neuroradiology 42 (5) (2021)
André Altmann, Mina Ryten, Martina Di Nunzio, Teresa Ravizza, Daniele Tolomeo, Regina H Reynolds, Alyma Somani, Marco Bacigaluppi, Valentina Iori, Edoardo Micotti, Rossella Di Sapia, Milica Cerovic, Eleonora Palma, Gabriele Ruffolo, Juan A Botía, Julie Absil, Saud Alhusaini, Marina K M Alvim, Pia Auvinen, Nuria Bargallo, Emanuele Bartolini, Benjamin Bender, Felipe P G Bergo, Tauana Bernardes, Andrea Bernasconi, Neda Bernasconi, Boris C Bernhardt, Karen Blackmon, Barbara Braga, Maria Eugenia Caligiuri, Anna Calvo, Chad Carlson, Sarah J A Carr, Gianpiero L Cavalleri, Fernando Cendes, Jian Chen, Shuai Chen, Andrea Cherubini, Luis Concha, Philippe David, Norman Delanty, Chantal Depondt, Orrin Devinsky, Colin P Doherty, Martin Domin, Niels K Focke, Sonya Foley, Wendy Franca, Antonio Gambardella, Renzo Guerrini, Khalid Hamandi, Derrek P Hibar, Dmitry Isaev, Graeme D Jackson, Neda Jahanshad, Reetta Kälviäinen, Simon S Keller, Peter Kochunov, Raviteja Kotikalapudi, Magdalena A Kowalczyk, Ruben Kuzniecky, Patrick Kwan, Angelo Labate, Soenke Langner, Matteo Lenge, Min Liu, Pascal Martin, Mario Mascalchi, Stefano Meletti, Marcia E Morita-Sherman, Terence J O'Brien, Jose C Pariente, Mark P Richardson, Raul Rodriguez-Cruces, Christian Rummel, Taavi Saavalainen, Mira K Semmelroch, Mariasavina Severino, Pasquale Striano, Thomas Thesen, Rhys H Thomas, Manuela Tondelli, Domenico Tortora, Anna Elisabetta Vaudano, Lucy Vivash, Felix von Podewils, Jan Wagner, Bernd Weber, Roland Wiest, Clarissa L Yasuda, Guohao Zhang, Junsong Zhang, null null, Costin Leu, Andreja Avbersek, null null, Maria Thom, Christopher D Whelan, Paul Thompson, Carrie R McDonald, Annamaria Vezzani, Sanjay M Sisodiya
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies. Neuropathology and applied neurobiology (2021)
G Talenti, Caroline D Robson, Mariasavina Severino, César Augusto Pinheiro Ferreira Alves, David Chitayat, H M Dahmoush, L Smith, Francesco Muntoni, Susan I Blaser, Felice D'Arco
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders. AJNR. American journal of neuroradiology 42 (1) (2020)
Mariasavina Severino, Livia Pisciotta, Domenico Tortora, Benedetta Toselli, Michela Stagnaro, Ramona Cordani, Giovanni Morana, Anna Zicca, Svetlana Kotzeva, Clelia Zanaboni, Giovanni Montobbio, Andrea Rossi, Elisa De Grandis, null null
White matter and cerebellar involvement in alternating hemiplegia of childhood. Journal of neurology 267 (5) (2020)
Ana Filipa Geraldo, S S Messina, Domenico Tortora, Alessandro Parodi, Mariya Malova, Giovanni Morana, Carlo Gandolfo, A D'Amico, E Herkert, Paul Govaert, Luca Ramenghi, Andrea Rossi, Mariasavina Severino
Neonatal Developmental Venous Anomalies: Clinicoradiologic Characterization and Follow-Up. AJNR. American journal of neuroradiology 41 (12) (2020)
Ana Filipa Geraldo, Alessandro Parodi, Marta Bertamino, Francesca Buffelli, Sara Uccella, Domenico Tortora, P Moretti, Luca Ramenghi, E Fulcheri, Andrea Rossi, Mariasavina Severino
Perinatal Arterial Ischemic Stroke in Fetal Vascular Malperfusion: A Case Series and Literature Review. AJNR. American journal of neuroradiology 41 (12) (2020)
Domenico Tortora, Francesco Maria Lo Russo, Mariasavina Severino, Alessandro Parodi, Paolo Massirio, Luca Antonio Ramenghi, Andrea Rossi
Regional impairment of cortical and deep gray matter perfusion in preterm neonates with low-grade germinal matrix-intraventricular hemorrhage: an ASL study. Neuroradiology 62 (12) (2020)
Silvia Masnada, Anna Pichiecchio, Manuela Formica, Filippo Arrigoni, Paola Borrelli, Patrizia Accorsi, Paolo Bonanni, Renato Borgatti, Bernardo Dalla Bernardina, Alberto Danieli, Francesca Darra, Nicolas Deconinck, Valentina De Giorgis, Olivier Dulac, Svetlana Gataullina, Lucio Giordano, Renzo Guerrini, Francesca La Briola, Massimo Mastrangelo, Martino Montomoli, Marzia Mortilla, Elisa Osanni, Pasquale Parisi, Emilio Perucca, Lorenzo Pinelli, Romina Romaniello, Mariasavina Severino, Federico Vigevano, Aglaia Vignoli, Nadia Bahi-Buisson, Mara Cavallin, Andrea Accogli, Marie Burgeois, Valeria Capra, Virgine Chaves-Vischer, Luisa Chiapparini, GiovannaStefania Colafati, Stefano D'Arrigo, Isabelle Desguerre, Martine Doco-Fenzy, Giuseppe d'Orsi, Nino Epitashvili, Elisa Fazzi, Alessandro Ferretti, Elena Fiorini, Melanie Fradin, Carlo Fusco, Tiziana Granata, Katrine Marie Johannesen, Sebastien Lebon, Philippe Loget, Rikke Steensjerre Moller, Domenico Montanaro, Simona Orcesi, Chloe Quelin, Erika Rebessi, Antonino Romeo, Roberta Solazzi, Carlotta Spagnoli, Christian Uebler, Federico Zara, Alexis A Arzimanoglou, Pierangelo Veggiotti, null null
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. Neurology 96 (9) (2020)
Sara Uccella, Andrea Accogli, Domenico Tortora, Maria Margherita Mancardi, Lino Nobili, Bianca Berloco, Giovanni Morana, Pasquale Striano, Valeria Capra, Myriam Srour, Christine Saint-Martin, Andrea Rossi, Mariasavina Severino
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. Journal of neurology 266 (5) (2019)
Domenico Tortora, Mariasavina Severino, M Pacetti, Giovanni Morana, Maria Margherita Mancardi, Valeria Capra, A Cama, Marco Pavanello, Andrea Rossi
Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy. AJNR. American journal of neuroradiology 39 (6) (2018)
Mariasavina Severino, Thea Giacomini, Enrico Verrina, Giulia Prato, Andrea Rossi
Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia. Neuroradiology 60 (9) (2018)
Giorgio Conte, Andrea Righini, Paul D Griffiths, Mariangela Rustico, Mariano Lanna, Fiona L Mackie, Lorenzo Pinelli, Federico Prefumo, Nicola Persico, Mark S Igra, Cecilia Parazzini, Chiara Doneda, Anna Fichera, Claudia Ambrosi, Mark Kilby, Mariasavina Severino, Fabio Triulzi, Andrea Rossi, Nicholas Skipper
Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study. Radiology 288 (2) (2018)
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations. Journal of neurology 265 (6) (2018)
Renzo Manara, L D'Agata, M C Rocco, R Cusmai, Elena Freri, Lorenzo Pinelli, Francesca Darra, Elena Procopio, R Mardari, Caterina Zanus, Gabriella Di Rosa, C Soddu, Mariasavina Severino, M Ermani, Daniela Longo, Stefano Sartori, null null
Neuroimaging Changes in Menkes Disease, Part 1. AJNR. American journal of neuroradiology 38 (10) (2017)
Mariasavina Severino, Domenico Tortora, Benedetta Toselli, Sara Uccella, M Traverso, Giovanni Morana, Valeria Capra, E Veneselli, Marco Massimo Fato, Andrea Rossi
Structural Connectivity Analysis in Children with Segmental Callosal Agenesis. AJNR. American journal of neuroradiology 38 (3) (2017)
Mariasavina Severino, Andrea Righini, Domenico Tortora, Lorenzo Pinelli, Cecilia Parazzini, Giovanni Morana, P Accorsi, Valeria Capra, Dario Paladini, Andrea Rossi
MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly. AJNR. American journal of neuroradiology 38 (8) (2017)
Domenico Tortora, Carola Martinetti, Mariasavina Severino, Sara Uccella, Mariya Malova, Alessandro Parodi, Fabia Brera, Giovanni Morana, Luca Antonio Ramenghi, Andrea Rossi
The effects of mild germinal matrix-intraventricular haemorrhage on the developmental white matter microstructure of preterm neonates: a DTI study. European radiology 28 (3) (2017)
Domenico Tortora, Mariasavina Severino, Mariya Malova, Alessandro Parodi, Giovanni Morana, Luca Ramenghi, Andrea Rossi
Variability of Cerebral Deep Venous System in Preterm and Term Neonates Evaluated on MR SWI Venography. AJNR. American journal of neuroradiology 37 (11) (2016)