Neurology. Genetics

Keyphrases

Publications

volume 10, number 3, 2024

Nada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, Ehab A El-Anany, Abdullah Alholle, Ashraf H Aboelanine, Sherief Omar, Rasha Alsafi, Alaa A Elmonairy, Fatemah J Alali, Ahmad Alahmad, Hind Alsharhan, Buthaina Albash, Dana Marafi
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder. Neurology. Genetics 10 (3) (2024)
Sonya Watson, Kathie J Ngo, Hannah A Stevens, Darice Y Wong, Jihye Kim, Yongjun Song, Beomman Han, Seong-In Hyun, Rin Khang, Seung Woo Ryu, Eugene Lee, Gohun Seo, Hane Lee, Clara Lajonchere, Brent L Fogel
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing. Neurology. Genetics 10 (3) (2024)
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, Jana Vandrovcova, Wai Yan Yau, Jae So Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study. Neurology. Genetics 10 (3) (2024)
Naz Karadag, Espen Hagen, Alexey A Shadrin, Dennis van der Meer, Kevin S O'Connell, Zillur Rahman, Gleda Kutrolli, Nadine Parker, Shahram Bahrami, Vera Fominykh, Kjell Heuser, Erik Taubøll, Nils Eiel Steen, Srdjan Djurovic, Anders M Dale, Oleksandr Frei, Ole Andreas Andreassen, Olav B Smeland
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology. Neurology. Genetics 10 (3) (2024)
Nada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, Ehab A El-Anany, Abdullah Alholle, Ashraf H Aboelanine, Sherief Omar, Rasha Alsafi, Alaa A Elmonairy, Fatemah J Alali, Ahmad Alahmad, Hind Alsharhan, Buthaina Albash, Dana Marafi
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder. Neurology. Genetics 10 (3) (2024)
Johanna Palmio, Panu Kiviranta, Päivi H Hartikainen, Pirjo Isohanni, Mari Auranen, Karoliina Videman, Sini Penttilä, Sara Lehtinen, Jarkko Kirjavainen, Susanna Hintikka, Katriina Paloviita, Janna Saarela, Bjarne Udd
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity. Neurology. Genetics 10 (3) (2024)
Johanna Palmio, Panu Kiviranta, Päivi H Hartikainen, Pirjo Isohanni, Mari Auranen, Karoliina Videman, Sini Penttilä, Sara Lehtinen, Jarkko Kirjavainen, Susanna Hintikka, Katriina Paloviita, Janna Saarela, Bjarne Udd
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity. Neurology. Genetics 10 (3) (2024)
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, Jana Vandrovcova, Wai Yan Yau, Jae So Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study. Neurology. Genetics 10 (3) (2024)
Elina Misicka, Yunfeng Huang, Stephanie J Loomis, Nilanjana Sadhu, Elizabeth Fisher, Arie Gafson, Heiko Runz, Ellen Tsai, Xiaoming Jia, Ann Herman, Paola G Bronson, Tushar Bhangale, Farren Basil Shaw Briggs
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis. Neurology. Genetics 10 (3) (2024)
Sonya Watson, Kathie J Ngo, Hannah A Stevens, Darice Y Wong, Jihye Kim, Yongjun Song, Beomman Han, Seong-In Hyun, Rin Khang, Seung Woo Ryu, Eugene Lee, Gohun Seo, Hane Lee, Clara Lajonchere, Brent L Fogel
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing. Neurology. Genetics 10 (3) (2024)
Jevin M Parmar, Elyshia L McNamara, Phillipa J Lamont, Kishore Raj Kumar, Audrey Rick, Marion Stoll, Pak Leng Cheong, Gianina Ravenscroft
Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report. Neurology. Genetics 10 (3) (2024)
Naz Karadag, Espen Hagen, Alexey A Shadrin, Dennis van der Meer, Kevin S O'Connell, Zillur Rahman, Gleda Kutrolli, Nadine Parker, Shahram Bahrami, Vera Fominykh, Kjell Heuser, Erik Taubøll, Nils Eiel Steen, Srdjan Djurovic, Anders M Dale, Oleksandr Frei, Ole Andreas Andreassen, Olav B Smeland
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology. Neurology. Genetics 10 (3) (2024)

volume 10, number 4, 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)
Clément Desjardins, Cécile Delorme, Aurélie Méneret, Constance Flamand, Nathalie Leveque, Jean-Madeleine de Sainte Agathe, Emmanuel Roze, Marie Vidailhet
A Novel Pattern of Dystonia in DYT- VPS16 : "Speaking in Tongues". Neurology. Genetics 10 (4) (2024)
Mario Tortora, Elisa Cattaneo, Luigina Spaccini, Maria Iascone, Barbara Scelsa, Alessia Micalizzi, Antonio Novelli, Mariano Lanna, Andrea Righini, Pierangelo Veggiotti, Chiara Doneda
Novel Genetic Variant in HUWE1 : Prenatal and Postnatal Neuroimaging Phenotype. Neurology. Genetics 10 (4) (2024)
Kimiko Domoto-Reilly, B Jane Distad, Danny E Miller, Yi-Han Lin, David Ivanick, Andrew S Warren, Suman Jayadev, Caitlin S Latimer
Clinicopathologic Characterization of 2 Individuals With TBK1 Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case Series. Neurology. Genetics 10 (4) (2024)
Rawan Alsafh, Amal M Alhashem, Aly Elsyed, Zafer Yüksel, Kalthoum Graiess-Tlili, Khalid Hundallah, Farah Thabet, Brahim Tabarki
Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly. Neurology. Genetics 10 (4) (2024)
Prateek Malik, Bidkar Sayli U, Benjamin B Mathew, Maya Thomas, Sangeetha Yoganathan
MRI Insights in Hypomyelinating Disorders With Early Myelination Disturbances. Neurology. Genetics 10 (4) (2024)
Kimiko Domoto-Reilly, B Jane Distad, Danny E Miller, Yi-Han Lin, David Ivanick, Andrew S Warren, Suman Jayadev, Caitlin S Latimer
Clinicopathologic Characterization of 2 Individuals With TBK1 Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case Series. Neurology. Genetics 10 (4) (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)
Charles Wade, Kyle Runeckles, Jeremy Chataway, Henry Houlden, David S Lynch
CSF1R -Related Disorder: Prevalence of CSF1R Variants and Their Clinical Significance in the UK Population. Neurology. Genetics 10 (4) (2024)
Rawan Alsafh, Amal M Alhashem, Aly Elsyed, Zafer Yüksel, Kalthoum Graiess-Tlili, Khalid Hundallah, Farah Thabet, Brahim Tabarki
Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly. Neurology. Genetics 10 (4) (2024)
Clément Desjardins, Cécile Delorme, Aurélie Méneret, Constance Flamand, Nathalie Leveque, Jean-Madeleine de Sainte Agathe, Emmanuel Roze, Marie Vidailhet
A Novel Pattern of Dystonia in DYT- VPS16 : "Speaking in Tongues". Neurology. Genetics 10 (4) (2024)
Monica S Arroyo, Christine Fuller, Elizabeth K Schorry, Elizabeth Ulm, Cuixia Tian
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report. Neurology. Genetics 10 (4) (2024)
Charles Wade, Kyle Runeckles, Jeremy Chataway, Henry Houlden, David S Lynch
CSF1R -Related Disorder: Prevalence of CSF1R Variants and Their Clinical Significance in the UK Population. Neurology. Genetics 10 (4) (2024)
Mar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, Marta Codina-Solà, Jordi Leno-Colorado, Marta Gómez-García De la Banda, Rocio Garcia-Uzquiano, Pascale Saugier-Veber, Séverine Drunat, Susana Quijano-Roy, Eduardo F Tizzano
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy. Neurology. Genetics 10 (4) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Mar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, Marta Codina-Solà, Jordi Leno-Colorado, Marta Gómez-García De la Banda, Rocio Garcia-Uzquiano, Pascale Saugier-Veber, Séverine Drunat, Susana Quijano-Roy, Eduardo F Tizzano
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy. Neurology. Genetics 10 (4) (2024)
Sunsanee Pongpakdee, Metha Apiwattanakul, Thanes Termglinchan, Rawiphan Witoonpanich, Charungthai Dejthevaporn, Theeraphong Lee, Supika Wansophonkul, Ai Yamanaka, Shunsuke Funaguma, Aritoshi Lida, Ichizo Nishino
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy. Neurology. Genetics 10 (4) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (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)
Prateek Malik, Bidkar Sayli U, Benjamin B Mathew, Maya Thomas, Sangeetha Yoganathan
MRI Insights in Hypomyelinating Disorders With Early Myelination Disturbances. Neurology. Genetics 10 (4) (2024)
Mario Tortora, Elisa Cattaneo, Luigina Spaccini, Maria Iascone, Barbara Scelsa, Alessia Micalizzi, Antonio Novelli, Mariano Lanna, Andrea Righini, Pierangelo Veggiotti, Chiara Doneda
Novel Genetic Variant in HUWE1 : Prenatal and Postnatal Neuroimaging Phenotype. Neurology. Genetics 10 (4) (2024)
Monica S Arroyo, Christine Fuller, Elizabeth K Schorry, Elizabeth Ulm, Cuixia Tian
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report. Neurology. Genetics 10 (4) (2024)

volume 10, number 5, 2024

Satoshi Saito, Satoshi Hosoki, Eriko Yamaguchi, Hiroyuki Ishiyama, Soichiro Abe, Takeshi Yoshimoto, Tomotaka Tanaka, Yorito Hattori, Yi Chu Liao, Yi-Chung Lee, Ikuko Mizuta, Toshiki Mizuno, Masafumi Ihara
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature Review. Neurology. Genetics 10 (5) (2024)
Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Jarosław Dulski, Matthew Baker, Samantha A Banks, Michael Bayat, Rose Bruffaerts, Gabriela Ortiz Cruz, Caio Cesar Diniz Disserol, Kristen S Fisher, Jainy N Jose, Bernadette Kalman, Orhun H Kantarci, Dmytro Maltsev, Catherine Middleton, Gabriela Novotni, Dijana Plaseska-Karanfilska, Salmo Raskin, Josiane Souza, Hélio Augusto Guizoni Teive, Zbigniew K Wszolek
Global Presence and Penetrance of CSF1R -Related Disorder. Neurology. Genetics 10 (5) (2024)
Emilie Groulx-Boivin, Andrea Oliveira-Carneiro, Helen L Carlson, Amalia Floer, Adam Kirton, Jean K Mah, Christine Saint-Martin, Roberta La Piana, Maryam Oskoui
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study. Neurology. Genetics 10 (5) (2024)
Karamala Yalapalli Manisha, Alfiya Fasaludeen, Prashanth Poulose, Ramshekhar Menon, Bejoy Thomas, Sruthi S Nair, Ajith Cherian, Kalikavil Puthanveedu Divya, Soumya Sundaram
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility. Neurology. Genetics 10 (5) (2024)
Siting Li, Jiang Gui, Michael N Passarelli, Angeline S Andrew, Kathleen M Sullivan, Kevin A Cornell, Bryan J Traynor, Ali Stark, Ruth Chia, Rebecca M Kuenzler, Erik P Pioro, Walter G Bradley, Elijah W Stommel
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts. Neurology. Genetics 10 (5) (2024)
Edouard Berling, Philippe Latour, Klervie Loiselet, Clément Guémy, Léo Vidoni, Norma B Romero, Emmanuelle Lacene, Teresinha Evangelista, Kristl G Claeys
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases. Neurology. Genetics 10 (5) (2024)
Karamala Yalapalli Manisha, Alfiya Fasaludeen, Prashanth Poulose, Ramshekhar Menon, Bejoy Thomas, Sruthi S Nair, Ajith Cherian, Kalikavil Puthanveedu Divya, Soumya Sundaram
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility. Neurology. Genetics 10 (5) (2024)
Fabian Dannenberg, Arpad Von Moers, Petra Bittigau, Jörn Lange, Sylvia Wiegand, Ferenc Török, Gabriel Stölting, Alexandra Pinggera, M Mahdi Motazacker, Marjoleine F Broekema, Markus Schuelke, Angela M Kaindl, Ute I Scholl, Nadine Jasmin Ortner
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia. Neurology. Genetics 10 (5) (2024)
Sarah E Robinson, Andrew R Findlay, Shan Li, Feng Wang, Marianela Schiava, Jil Daw, Jordi Díaz-Manera, Tsui-Fen Chou, Conrad C Weihl
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1. Neurology. Genetics 10 (5) (2024)
Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Eliot N Haddad, Pranav Kumar, Galen Shearn-Nance, G Abbas Kharal, Andrew Dhawan
Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke. Neurology. Genetics 10 (5) (2024)
Edouard Berling, Philippe Latour, Klervie Loiselet, Clément Guémy, Léo Vidoni, Norma B Romero, Emmanuelle Lacene, Teresinha Evangelista, Kristl G Claeys
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases. Neurology. Genetics 10 (5) (2024)
Jonathan LoVoi, Don Q Thai, Jennifer Han, Sophia Wang, Makeda Agonafer, Baburaj Thankappan
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU. Neurology. Genetics 10 (5) (2024)
Lina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, Marion Doladilhe, Christine Bulteau, Emmanuel Raffo, Sarah Rosenberg, Georg Dorfmuller, Rayann Checri, Jean-Madeleine de Sainte Agathe, Eric Le Guern, Homa Adle-Biassette, Sara Baldassari, Stephanie Baulac
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants. Neurology. Genetics 10 (5) (2024)
Eliot N Haddad, Pranav Kumar, Galen Shearn-Nance, G Abbas Kharal, Andrew Dhawan
Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke. Neurology. Genetics 10 (5) (2024)