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Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 27, 2021
Expanded phenotype of AARS1-related white matter disease
Guy Helman, Marisa I Mendes, Francesco Nicita, et al.
American Journal of Human Genetics
|
June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
Rebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Molecular Genetics and Metabolism
|
February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Francesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.
Neurology. Genetics
|
April 4, 2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
Salvatore Rossi, Anna Rubegni, Vittorio Riso, et al.
Frontiers in Pediatrics
|
May 23, 2022
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort
Chiara Po', Margherita Nosadini, Marialuisa Zedde, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Annals of Neurology
|
April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G Calame, Isabella Herman, Reza Maroofian, et al.
American Journal of Human Genetics
|
June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Paulina Cunha, Emilien Petit, Marie Coutelier, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
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Showing results (111-120 of 120) with videos related to
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This site can display upto 120 results.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 27, 2021
Expanded phenotype of AARS1-related white matter disease
Guy Helman, Marisa I Mendes, Francesco Nicita, et al.
American Journal of Human Genetics
|
June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
Rebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Molecular Genetics and Metabolism
|
February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Francesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.
Neurology. Genetics
|
April 4, 2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
Salvatore Rossi, Anna Rubegni, Vittorio Riso, et al.
Frontiers in Pediatrics
|
May 23, 2022
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort
Chiara Po', Margherita Nosadini, Marialuisa Zedde, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Annals of Neurology
|
April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G Calame, Isabella Herman, Reza Maroofian, et al.
American Journal of Human Genetics
|
June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Paulina Cunha, Emilien Petit, Marie Coutelier, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
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of 12