A
Abbink, Truus E.M.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Abedi, Vida
- Open AccessPolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
Aiello, Chiara
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Al-Ouran, Rami
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Alfradique-Dunham, Isabel
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Alvarez, Karin
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Ances, Beau M.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
B
Bakulski, Kelly M.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Barba, Carmen
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Barkovich, A. James
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Barnes, Lisa L.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Barsottini, Orlando G.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Basel-Salmon, Lina
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Bassez, Guillaume
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Bassi, Maria Teresa
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Bauer, Noel J.C.
- Open AccessBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
Bazak, Lili
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Bellacchio, Emanuele
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Bello-Espinosa, Lourdes
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
Benke, Kelly S.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Bennett, David A.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Benninger, Felix
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Benzinger, Tammie L.S.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Bertini, Enrico S.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Bhatia, Kailash P.
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Blauwendraat, Cornelis
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Bruhn, Helene
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Bulancea, Sabrina
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
C
Calvo-Garrido, Javier
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Carey, David J.
- Open AccessPolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
Carvill, Gemma L.
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Castiglioni, Claudia
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Chaudhary, Durgesh P.
- Open AccessPolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
Chow, Gabriel
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Citterio, Andrea
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Cruchaga, Carlos
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Cumming, Sarah A.
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
- Open AccessNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
D
Daidj, Ferroudja
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Dallabona, Cristina
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Damásio, Joana
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Del Bondio, Andrea
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Deming, Yuetiva
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
de Wit, Marie Claire Y.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Dietrich, Pierre-Yves
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Di Lazzaro, Giulia
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Dobyns, William B.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Donis, Karina C.
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Dremmen, Marjolein H.G.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Dutoit, Valerie
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
E
Eliahou, Ruth
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Engvall, Martin
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Erasmus, Corrie E.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Estevez-Fraga, Carlos
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
F
Fagan, Anne M.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Farias, Fabiana H.G.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Faul, Jessica D.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Fellner, Avi
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Figuccia, Sonia
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Filippi, Massimo
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Freitas, Joel
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Freyer, Christoph
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Fukuda, Hideki
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
G
Gao, Dadi
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Goffrini, Paola
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Goldberg, Yael
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Greenbaum, Lior
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Griessenauer, Christoph
- Open AccessPolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
Grosset, Donald
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Guerrieri, Simone
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Guerrini, Renzo
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Gutmann, Laurie
- Open AccessNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
Gutschmidt, Kristina
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
H
Hayashi, Masaharu
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Heeringa, Steven G.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Hellmann, Mark Andrew
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Hensman Moss, Davina
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Henson, Rachel L.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Hernandez, Dena
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Higuchi, Tetsuya
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Hill, Emily
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Hogarth, Fiona
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Holtzman, David M.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Hoshino, Kyoko
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Houlden, Henry
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Hughes, Sarah
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
I
Ikeda, Yoshio
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
J
Jankovic, Joseph
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Jimenez-Moreno, Aura Cecilia
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Joseph, Amulya
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
K
Kaji, Ryuji
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Kamsteeg, Erik-Jan
- Open AccessBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
Kardia, Sharon L.R.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Kaufmann, Horacio
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Kaw, Anita
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Kawarai, Toshitaka
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Khan, Ayesha
- Open AccessPolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
Kimura, Kazue
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Knoop, Hans
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Koscik, Timothy R.
- Open AccessNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
Kothera, Ronald T.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
L
Langa, Kenneth M.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Latorre, Anna
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Lebon, Sebastien
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Lesko, Nicole
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Li, Jiang
- Open AccessPolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, Christoph Griessenauer, David J. Carey, Ramin Zand, Vida Abedi
Liao, Calwing
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Liu, Zhandong
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Lleó, Alberto
Llibre-Guerra, Jorge J.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Lobrinus, Johannes Alexander
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Lochmüller, Hanns
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Luo, Lan
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
M
Mackenzie, Melissa
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Magnotta, Vincent
- Open AccessNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
Magrinelli, Francesca
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Maltecca, Francesca
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Mancini, Grazia M.S.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Manly, Jennifer J.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Marchidann, Adrian
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
Marin, Samantha
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Marinari, Eliana
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Marini, Carla
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Martinelli Boneschi, Filippo
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
McCue, Lena
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
McTague, Amy
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Mefford, Heather C.
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Migliorini, Denis
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Mikesell, Robert J.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Mitchell, Colter M.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Monckton, Darren
- Open AccessNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
Monckton, Darren G.
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Morris, Huw
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Morris, John C.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Moulder, Krista L.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Mulroy, Eoin
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Myers, Kenneth A.
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
N
Nalls, Mike
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Nennesmo, Inger
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Nguyen, John
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Nicolai, Joost
- Open AccessBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
Nietert, Paul J.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Nikolaev, Sergey
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Nopoulos, Peggy
- Open AccessNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, Sarah A. Cumming, Darren Monckton, Laurie Gutmann, Peggy Nopoulos
Norcliffe-Kaufmann, Lucy
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Nwebube, Chineze
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
O
Okkersen, Kees
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Okuma, Cecilia
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Ozelius, Laurie J.
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
P
Palma, Jose-Alberto
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Palma, Mariana M.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Pandey, Janardan P.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Panetta, Julie
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Pedroso, José Luiz
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Pennings, Maartje
- Open AccessBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
Piccio, Laura
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Pihlstrom, Lasse
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Pras, Elon
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Press, Rayomand
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
R
Radaelli, Marta
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Rahikkala, Elisa
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Rezende Filho, Flávio M.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Rosati, Anna
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Rouleau, Guy A.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
S
Sallevelt, Suzanne C.E.H.
- Open AccessBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
Sallum, Juliana M.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Samuelsson, Kristin
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Sanchez‐Valle, Amarilis
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Saute, Jonas Alex
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
Scarlato, Marina
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Schaller, Karl
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Scheffer, Ingrid E.
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Schindler, Suzanne E.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Schmitt-Mechelke, Thomas
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Schober, Florian A.
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Schoser, Benedikt
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Schot, Rachel
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Scott, Richard H.
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Sferruzza, Giacomo
- Open AccessU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
Shkedi-Rafid, Shiri
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Shor, Oded
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Shulman, Joshua M.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Shulman, Lisa M.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Singleton, Andrew B.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Slaugenhaupt, Susan
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Smith, Jennifer A.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Smits, Daphne J.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Stanley, Thorsten
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Stellingwerff, Menno D.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Stiebel-Kalish, Hadas
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Stillwell, Amanda
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Stranneheim, Henrik
- Open AccessNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Stutterd, Chloe
- Open AccessPhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer
Stutterd, Chloe A.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Suárez-Calvet, Marc
Sweadner, Kathleen J.
- Open AccessRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, Jonas Alex Saute, Joel Freitas, Joana Damásio, Karina C. Donis, Kazue Kimura, Hideki Fukuda, Masaharu Hayashi, Tetsuya Higuchi, Yoshio Ikeda, Laurie J. Ozelius, Ryuji Kaji
T
Tabrizi, Sarah J.
- Open AccessExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J. Tabrizi, Kailash P. Bhatia
Tan, Manuela
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Teunissen, Mariel W.A.
- Open AccessBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, Maartje Pennings, Noel J.C. Bauer, R. Jeroen Vermeulen, Joost Nicolai
Topaloglu, Pinar
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Treidler, Simona
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
Tsantoulis, Petros
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
V
Vadari, Harita S.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Van der Knaap, Marjo S.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
van der Plas, Ellen
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van Engelen, Baziel G.M.
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van Slegtenhorst, Marjon
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Vargas, Maria-Isabel
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Vasco, Gessica
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Vermeulen, R. Jeroen
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Vezzulli, Paolo
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von Coelln, Rainer
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Ware, Erin B.
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Wedell, Anna
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Wenninger, Stephan
- Open AccessAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G. Monckton, Baziel G.M. van Engelen, Benedikt Schoser
Wibom, Rolf
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Wilf-Yarkoni, Adi
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Wilke, Martina
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Wilkins, Consuelo H.
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Wredenberg, Anna
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Xiong, Chengjie
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Y
Yadav, Rachita
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Yonath, Hagit
- Open AccessMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg
Young, Emily
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
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Zand, Ramin
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