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Nature Genetics
|
September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Magdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.
American Journal of Human Genetics
|
February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Annals of Neurology
|
May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.
Journal of the Peripheral Nervous System : JPNS
|
January 31, 2024
Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study
Volkan Tasdemir, Nermin Gorkem Sirin, Arman Cakar, et al.
Cell
|
September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
Shinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.
Nature Genetics
|
July 30, 2015
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Andrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, 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.
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of 7
Search research articles
Search
Showing results (51-60 of 61) with videos related to
Sort By:
Page
of 7
Nature Genetics
|
September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Magdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.
American Journal of Human Genetics
|
February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Annals of Neurology
|
May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.
Journal of the Peripheral Nervous System : JPNS
|
January 31, 2024
Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study
Volkan Tasdemir, Nermin Gorkem Sirin, Arman Cakar, et al.
Cell
|
September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
Shinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.
Nature Genetics
|
July 30, 2015
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Andrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, 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.
Page
of 7