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Clinical Genetics
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November 24, 2025
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
November 24, 2018
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
David S Lynch, Charles Wade, Anderson Rodrigues Brandão de Paiva, et al.
JAMA Neurology
|
October 18, 2016
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
David S Lynch, Wei Jia Zhang, Rahul Lakshmanan, et al.
Neuromuscular Disorders : NMD
|
September 29, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Enrico Bugiardini, Alaa M Khan, Rahul Phadke, et al.
Brain : a Journal of Neurology
|
May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Eleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Journal of Neurology
|
June 26, 2026
The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature
Charles Wade, Anderson Rodrigues Brandão de Paiva, Paulo Ribeiro Nóbrega, et al.
Brain : a Journal of Neurology
|
July 17, 2018
A novel complex neurological phenotype due to a homozygous mutation in FDX2
Juliana Gurgel-Giannetti, David S Lynch, Anderson Rodrigues Brandão de Paiva, et al.
Brain : a Journal of Neurology
|
March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adults
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
American Journal of Human Genetics
|
April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 3, 2023
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Anderson Rodrigues Brandão de Paiva, André Luiz Santos Pessoa, Paulo Ribeiro Nóbrega, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 53) with videos related to
Sort By:
Page
of 6
Clinical Genetics
|
November 24, 2025
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
November 24, 2018
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
David S Lynch, Charles Wade, Anderson Rodrigues Brandão de Paiva, et al.
JAMA Neurology
|
October 18, 2016
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
David S Lynch, Wei Jia Zhang, Rahul Lakshmanan, et al.
Neuromuscular Disorders : NMD
|
September 29, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Enrico Bugiardini, Alaa M Khan, Rahul Phadke, et al.
Brain : a Journal of Neurology
|
May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Eleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Journal of Neurology
|
June 26, 2026
The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature
Charles Wade, Anderson Rodrigues Brandão de Paiva, Paulo Ribeiro Nóbrega, et al.
Brain : a Journal of Neurology
|
July 17, 2018
A novel complex neurological phenotype due to a homozygous mutation in FDX2
Juliana Gurgel-Giannetti, David S Lynch, Anderson Rodrigues Brandão de Paiva, et al.
Brain : a Journal of Neurology
|
March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adults
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
American Journal of Human Genetics
|
April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 3, 2023
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Anderson Rodrigues Brandão de Paiva, André Luiz Santos Pessoa, Paulo Ribeiro Nóbrega, et al.
Page
of 6