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International Journal of Molecular Sciences
|
May 14, 2025
Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes <i>GLB1</i>, <i>SLC6A3</i>, <i>SLC30A10</i>, <i>SLC39A14</i>, and <i>PLA2G6</i>: MDSGene Systematic Review
Jon Rodriguez-Antiguedad, Rajasumi Rajalingam, Clara Krüger, et al.
NPJ Parkinson'S Disease
|
March 26, 2025
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population
Lara M Lange, Kristin Levine, Susan H Fox, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
Philip Harrer, Matej Škorvánek, Volker Kittke, et al.
American Journal of Human Genetics
|
June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Marija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.
Parkinsonism & Related Disorders
|
May 27, 2026
Essential genetic testing in movement disorders - results from a Delphi study
Vanessa Carvalho, Leonor Correia Guedes, Emilia Gatto, et al.
Journal of Parkinson'S Disease
|
February 20, 2025
New insights from a Malaysian real-world deep brain stimulation cohort
Alfand Marl F Dy Closas, Ai Huey Tan, Yi Wen Tay, et al.
Parkinsonism & Related Disorders
|
May 20, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population
Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, et al.
Orphanet Journal of Rare Diseases
|
August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Annals of Neurology
|
April 19, 2013
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Katja Lohmann, Robert A Wilcox, Susen Winkler, et al.
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.
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Search research articles
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Showing results (221-230 of 267) with videos related to
Sort By:
Page
of 27
International Journal of Molecular Sciences
|
May 14, 2025
Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes <i>GLB1</i>, <i>SLC6A3</i>, <i>SLC30A10</i>, <i>SLC39A14</i>, and <i>PLA2G6</i>: MDSGene Systematic Review
Jon Rodriguez-Antiguedad, Rajasumi Rajalingam, Clara Krüger, et al.
NPJ Parkinson'S Disease
|
March 26, 2025
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population
Lara M Lange, Kristin Levine, Susan H Fox, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
Philip Harrer, Matej Škorvánek, Volker Kittke, et al.
American Journal of Human Genetics
|
June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Marija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.
Parkinsonism & Related Disorders
|
May 27, 2026
Essential genetic testing in movement disorders - results from a Delphi study
Vanessa Carvalho, Leonor Correia Guedes, Emilia Gatto, et al.
Journal of Parkinson'S Disease
|
February 20, 2025
New insights from a Malaysian real-world deep brain stimulation cohort
Alfand Marl F Dy Closas, Ai Huey Tan, Yi Wen Tay, et al.
Parkinsonism & Related Disorders
|
May 20, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population
Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, et al.
Orphanet Journal of Rare Diseases
|
August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Annals of Neurology
|
April 19, 2013
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Katja Lohmann, Robert A Wilcox, Susen Winkler, et al.
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.
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of 27