Search research articles
Contact Us
Filters
Showing results (131-140 of 135) with videos related to
Page
of 14
Sort By:
You have reached the last page of results.
This site can display upto 135 results.
Human Mutation
|
December 24, 2016
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, et al.
Brain : a Journal of Neurology
|
September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Page
of 14
Search research articles
Search
Showing results (131-140 of 135) with videos related to
Sort By:
Page
of 14
You have reached the last page of results.
This site can display upto 135 results.
Human Mutation
|
December 24, 2016
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, et al.
Brain : a Journal of Neurology
|
September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
Page
of 14