Niccolò Emanuele Mencacci (Niccolo E Mencacci, Niccolò E Mencacci, Niccolo' E Mencacci, Niccoló E Mencacci)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 29

Top Topics

Endoplasmic Reticulum

Deep Brain Stimulation

Top Venues

Movement disorders : official journal of the Movement Disorder Society

medRxiv : the preprint server for health sciences

Journal of neural transmission (Vienna, Austria : 1996)

Nature genetics

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

Publications

Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale. Movement disorders : official journal of the Movement Disorder Society (2024)
Mariana H G Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò Emanuele Mencacci
A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity? Movement disorders : official journal of the Movement Disorder Society (2024)
Mariana H G Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò Emanuele Mencacci
A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity? Movement disorders : official journal of the Movement Disorder Society 39 (5) (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society (2024)
Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B Moloney, Isabel Colangelo, Federica Graziola, Barbara Garavaglia, Giovanna Zorzi, Niccolò Emanuele Mencacci, Steven J Lubbe
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report. Movement disorders : official journal of the Movement Disorder Society (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Mariana H G Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò Emanuele Mencacci
A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity? Movement disorders : official journal of the Movement Disorder Society 39 (5) (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò Emanuele Mencacci
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. Movement disorders : official journal of the Movement Disorder Society 39 (7) (2024)
Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B Moloney, Isabel Colangelo, Federica Graziola, Barbara Garavaglia, Giovanna Zorzi, Niccolò Emanuele Mencacci, Steven J Lubbe
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report. Movement disorders : official journal of the Movement Disorder Society 39 (4) (2024)
Mariana H G Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò Emanuele Mencacci
A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity? Movement disorders : official journal of the Movement Disorder Society 39 (5) (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Federica Rachele Danti, Ignacio Juan Keller Sarmiento, Patrick B Moloney, Isabel Colangelo, Federica Graziola, Barbara Garavaglia, Giovanna Zorzi, Niccolò Emanuele Mencacci, Steven J Lubbe
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report. Movement disorders : official journal of the Movement Disorder Society 39 (4) (2024)
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis, Caterina Galandra, Thomas Gasser, Peter Heutink, Anastasia Illarionova, Yuliia Kanana, Ignacio J Keller Sarmiento, Kishore Raj Kumar, Shen-Yang Lim, Harutyun Madoev, Ignacio Fernandez Mata, Niccolò Emanuele Mencacci, Mike A Nalls, Shalini Padmanabhan, Cholpon Shambetova, J C Solle, Ai-Huey Tan, Joanne Trinh, Enza Maria Valente, Andrew Singleton, Cornelis Blauwendraat, Katja Lohmann, Zih-Hua Fang, Christine Klein, null null
Understanding monogenic Parkinson's disease at a global scale. medRxiv : the preprint server for health sciences (2024)
Philip Harrer, Matej Skorvanek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriama Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore Raj Kumar, Niccolò Emanuele Mencacci, Manju A Kurian, Alessio di Fonzo, Sylvia Boesch, Andrea A Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard Haslinger, David Weise, Robert Jech, Juliane Winkelmann, Michael Zech
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Movement disorders : official journal of the Movement Disorder Society (2023)
Gian D Pal, Lola Cook, Jeanine Schulze, Jennifer Verbrugge, Roy N Alcalay, Marcello Merello, Carolyn M Sue, Soraya Bardien, Vincenzo Bonifati, Sun Ju Chung, Tatiana Foroud, Emilia Gatto, Anne Hall, Nobutaka Hattori, Tim Lynch, Karen Marder, Deborah Mascalzoni, Ivana Novaković, Avner Thaler, Deborah Raymond, Mehri Salari, Ali Shalash, Oksana Suchowersky, Niccolò Emanuele Mencacci, Tanya Simuni, Rachel Saunders-Pullman, Christine Klein
Genetic Testing in Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society (2023)
Rachel Saunders-Pullman, Deborah Raymond, Roberto A Ortega, Ali Shalash, Emilia Gatto, Mehri Salari, Maggie Markgraf, Roy N Alcalay, Deborah Mascalzoni, Niccolò Emanuele Mencacci, Vincenzo Bonifati, Marcello Merello, Sun Ju Chung, Ivana Novakovic, Soraya Bardien, Gian D Pal, Anne Hall, Nobutaka Hattori, Timothy Lynch, Avner Thaler, Carolyn M Sue, Tatiana Foroud, Jennifer Verbrugge, Jeanine Schulze, Lola Cook, Karen Marder, Oksana Suchowersky, Christine Klein, Tatyana Simuni
International Genetic Testing and Counseling Practices for Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society (2023)
Elisabetta Indelicato, Sylvia Boesch, Niccolò Emanuele Mencacci, Daniele Ghezzi, Holger Prokisch, Juliane Winkelmann, Michael Zech
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine. Movement disorders : official journal of the Movement Disorder Society (2023)
Francesca Magrinelli, Niccolò Emanuele Mencacci
Digging into the Unknowns of the Human Genome Sequence: The T2T-CHM13 Reference Assembly Release. Movement disorders : official journal of the Movement Disorder Society 37 (11) (2022)
Francesca Magrinelli, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolò Emanuele Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H Nemeth, German Demidov, Henry Houlden, Kailash P Bhatia
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder. Movement disorders : official journal of the Movement Disorder Society (2022)
Michael Zech, Kishore R Kumar, Sophie Reining, Janine Reunert, Michel Tchan, Lisa G Riley, Alexander P Drew, Robert J Adam, Riccardo Berutti, Saskia Biskup, Nicolas Derive, Somayeh Bakhtiari, Sheng Chih Jin, Michael C Kruer, Tanya Bardakjian, Pedro Gonzalez-Alegre, Ignacio J Keller Sarmiento, Niccolò Emanuele Mencacci, Steven J Lubbe, Manju A Kurian, Fabienne Clot, Aurélie Méneret, Jean-Madeleine de Sainte Agathe, Victor S C Fung, Marie Vidailhet, Matthias Baumann, Thorsten Marquardt, Juliane Winkelmann, Sylvia Boesch
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement disorders : official journal of the Movement Disorder Society (2021)
Paulina Gonzalez-Latapi, Nicolas Marotta, Niccolò Emanuele Mencacci
Emerging and converging molecular mechanisms in dystonia. Journal of neural transmission (Vienna, Austria : 1996) 128 (4) (2021)
Roberto Erro, Niccolò Emanuele Mencacci, Kailash P Bhatia
The Emerging Role of Phosphodiesterases in Movement Disorders. Movement disorders : official journal of the Movement Disorder Society 36 (10) (2021)
Niccolò Emanuele Mencacci, Dora Steel, Francesca Magrinelli, Jerry Hsu, Ignacio Juan Keller Sarmiento, Mónica Troncoso Schifferli, Daniela Muñoz, Leonidas Stefanis, Steven J Lubbe, Nicholas W Wood, Manju A Kurian, Maria Stamelou
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant. Movement disorders : official journal of the Movement Disorder Society 36 (6) (2021)
Ignacio Juan Keller Sarmiento, Niccolò Emanuele Mencacci
Genetic Dystonias: Update on Classification and New Genetic Discoveries. Current neurology and neuroscience reports 21 (3) (2021)
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolò Emanuele Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Margo Whiteford, Shibalik Misra, Shekeeb S Mohammad, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, null null, null null, null null, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, André Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature genetics 49 (2) (2016)