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Journal of Neural Transmission (Vienna, Austria : 1996)
|
November 15, 2021
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features
Jia Lun Lim, Katja Lohmann, Ai Huey Tan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 13, 2018
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review
Meike Kasten, Corinna Hartmann, Jennie Hampf, et al.
European Journal of Human Genetics : EJHG
|
August 18, 2011
Identification and functional analysis of novel THAP1 mutations
Katja Lohmann, Nils Uflacker, Alev Erogullari, et al.
NPJ Genomic Medicine
|
October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Journal of Neurology
|
February 14, 2016
The role of mutations in COL6A3 in isolated dystonia
Katja Lohmann, Felix Schlicht, Marina Svetel, et al.
NPJ Parkinson'S Disease
|
June 27, 2023
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)
Lara M Lange, Micol Avenali, Melina Ellis, et al.
Movement Disorders Clinical Practice
|
February 24, 2026
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Ce Kang, Rajasumi Rajalingam, Zachary Walls, et al.
NPJ Parkinson'S Disease
|
September 13, 2023
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)
Lara M Lange, Micol Avenali, Melina Ellis, et al.
Genes
|
October 24, 2017
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias
Eva Hebert, Friederike Borngräber, Alexander Schmidt, et al.
JAMA Neurology
|
February 19, 2014
Mutations in GNAL: a novel cause of craniocervical dystonia
Kishore R Kumar, Katja Lohmann, Ikuo Masuho, et al.
Page
of 27
Search research articles
Search
Showing results (201-210 of 267) with videos related to
Sort By:
Page
of 27
Journal of Neural Transmission (Vienna, Austria : 1996)
|
November 15, 2021
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features
Jia Lun Lim, Katja Lohmann, Ai Huey Tan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 13, 2018
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review
Meike Kasten, Corinna Hartmann, Jennie Hampf, et al.
European Journal of Human Genetics : EJHG
|
August 18, 2011
Identification and functional analysis of novel THAP1 mutations
Katja Lohmann, Nils Uflacker, Alev Erogullari, et al.
NPJ Genomic Medicine
|
October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Journal of Neurology
|
February 14, 2016
The role of mutations in COL6A3 in isolated dystonia
Katja Lohmann, Felix Schlicht, Marina Svetel, et al.
NPJ Parkinson'S Disease
|
June 27, 2023
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)
Lara M Lange, Micol Avenali, Melina Ellis, et al.
Movement Disorders Clinical Practice
|
February 24, 2026
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Ce Kang, Rajasumi Rajalingam, Zachary Walls, et al.
NPJ Parkinson'S Disease
|
September 13, 2023
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)
Lara M Lange, Micol Avenali, Melina Ellis, et al.
Genes
|
October 24, 2017
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias
Eva Hebert, Friederike Borngräber, Alexander Schmidt, et al.
JAMA Neurology
|
February 19, 2014
Mutations in GNAL: a novel cause of craniocervical dystonia
Kishore R Kumar, Katja Lohmann, Ikuo Masuho, et al.
Page
of 27