de Gusmão Claudio M - Department of Neurology, Boston Children's Hospital

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论文共 56 篇作者统计合作学者相似作者

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Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and Ipsc Banking to Longitudinal Deep-Phenotyping

Alain Ndayisaba,Ariana T. Pitaro, Andrew S. Willett, Kristie A. Jones,Claudio Melo de Gusmao,Abby L. Olsen,Jisoo Kim,Eero Rissanen,Jared K. Woods,Sharan R. Srinivasan,Anna Nagy,Amanda Nagy,Merlyne Mesidor,Steven Cicero,Viharkumar Patel,Derek H. Oakley,Idil Tuncali, Katherine Taglieri-Noble, Emily C. Clark,Jordan Paulson,Richard C. Krolewski,Gary P. Ho,Albert Y. Hung,Anne-Marie Wills,Michael T. Hayes,Jason P. Macmore,Luigi Warren,Pamela G. Bower, Carol B. Langer, Lawrence R. Kellerman, Christopher W. Humphreys,Bonnie I. Glanz,Elodi J. Dielubanza,Matthew P. Frosch,Roy L. Freeman,Christopher H. Gibbons,Nadia Stefanova,Tanuja Chitnis,Howard L. Weiner,Clemens R. Scherzer,Sonja W. Scholz,Dana Vuzman,Laura M. Cox,Gregor Wenning,Jeremy D. Schmahmann,Anoopum S. Gupta,Peter Novak,Geoffrey S. Young,Mel B. Feany,Tarun Singhal,Vikram Khurana

CEREBELLUMno. 1 (2024): 31-51

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Teaching Video NeuroImage: Oculomotor Abnormalities in Patients with Alternating Hemiplegia of Childhood

Andreia B. Azzoni, Mayara T. Sakuma, Leticia P. Sampaio,Claudio M. De Gusmao

NEUROLOGYno. 7 (2024)

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The Spectrum of Neurological Presentation in Individuals Affected by TBL1XR1 Gene Defects

Amanda Nagy,Francine Molay, Sarah Hargadon,Claudia Brito Pires,Natalie Grant,Lizbeth De La Rosa Abreu,Jin Yun Chen,Precilla D’Souza,Ellen Macnamara,Cynthia Tifft,Catherine Becker,Claudio Melo De Gusmao,Vikram Khurana,Ann M. Neumeyer,Florian S. Eichler

ORPHANET JOURNAL OF RARE DISEASESno. 1 (2024)

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Gerstmann-Sträussler-Scheinker Disease Presenting As Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology

Christopher D. Stephen,Claudio Melo de Gusmao,Sharan R. Srinivasan,Abby Olsen,Fernando Freua,Fernando Kok, Renata Montes Garcia Barbosa,Jin Yun (Helen) Chen,Brian S. Appleby,Thomas Prior,Matthew P. Frosch,Jeremy D. Schmahmann

MOVEMENT DISORDERS CLINICAL PRACTICEno. 4 (2024): 411-423

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Repeat expansion disorders

Sharan R. Srinivasan,Claudio Melo de Gusmao,Joanna A. Korecka,Vikram Khurana

Neurobiology of Brain Disorderspp.293-312, (2023)

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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities

Parith Wongkittichote,Maria Laura Duque Lasio,Martina Magistrati,Sheel Pathak,Brooke Sample,Daniel Rocha Carvalho, Adriana Banzzatto Ortega,Matheus Augusto Araújo Castro,Claudio M. de Gusmao,Tomi L. Toler,Emanuele Bellacchio,Cristina Dallabona,Marwan Shinawi

Molecular Genetics and Metabolismno. 4 (2023): 107630-107630

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Pearls & Oy-sters: Paroxysmal Exercise-Induced DyskinesiasDue to Pyruvate DehydrogenaseDeficiency

Claudio M. de Gusmao,Isabella Peixoto de Barcelos,Anna L. R. Pinto,Laura Silveira-Moriyama

NEUROLOGYno. 1 (2023): 46-49

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P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

Parith Wongkittichote, Laura Duque Lasio,Martina Magistrati,Sheel Pathak,Brooke Sample, Daniel Carvalho, Adrianna Banzzatto Ortega,Claudio de Gusmao,Matheus Castro,Tomi Toler,Emanuele Bellacchio,Cristina Dallabona,Marwan Shinawi

Genetics in Medicine Openno. 1 (2023): 100388-100388

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Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency

Claudio M de Gusmao,Isabella Peixoto de Barcelos,Anna L R Pinto,Laura Silveira-Moriyama

Neurology（2023）

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A framework for individualized splice-switching oligonucleotide therapy

Jinkuk Kim,Sijae Woo,Claudio M. de Gusmao,Boxun Zhao,Diana H. Chin,Renata L. DiDonato,Minh A. Nguyen,Tojo Nakayama, Chunguang April Hu,Aubrie Soucy,Ashley Kuniholm, Jennifer Karlin Thornton,Olivia Riccardi,Danielle A. Friedman,Christelle Moufawad El Achkar,Zane Dash,Laura Cornelissen,Carolina Donado,Kamli N. W. Faour,Lynn W. Bush,Victoria Suslovitch, Claudia Lentucci,Peter J. Park,Eunjung Alice Lee,Al Patterson,Anthony A. Philippakis, Brad Margus,Charles B. Berde,Timothy W. Yu

Nature（2023）

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