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Orphanet Journal of Rare Diseases
|
March 23, 2021
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
NPJ Parkinson'S Disease
|
February 23, 2025
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant
Shen-Yang Lim, Tzi Shin Toh, Jia Wei Hor, et al.
Nature Communications
|
May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.
American Journal of Human Genetics
|
June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
American Journal of Human Genetics
|
December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes
Mirja Thomsen, Katrin Marth, Sebastian Loens, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 16, 2024
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
Sara Bandres-Ciga, Faraz Faghri, Elisa Majounie, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 26, 2024
Understanding monogenic Parkinson's disease at a global scale
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
Frontiers in Neurology
|
September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
Tatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 30, 2024
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
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Search research articles
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Showing results (231-240 of 268) with videos related to
Sort By:
Page
of 27
Orphanet Journal of Rare Diseases
|
March 23, 2021
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
NPJ Parkinson'S Disease
|
February 23, 2025
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant
Shen-Yang Lim, Tzi Shin Toh, Jia Wei Hor, et al.
Nature Communications
|
May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.
American Journal of Human Genetics
|
June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
American Journal of Human Genetics
|
December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes
Mirja Thomsen, Katrin Marth, Sebastian Loens, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 16, 2024
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
Sara Bandres-Ciga, Faraz Faghri, Elisa Majounie, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 26, 2024
Understanding monogenic Parkinson's disease at a global scale
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
Frontiers in Neurology
|
September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
Tatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 30, 2024
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale
Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
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of 27