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Journal of the Peripheral Nervous System : JPNS
|
April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Brain : a Journal of Neurology
|
May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Brain : a Journal of Neurology
|
June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
Danique Beijer, Maike F Dohrn, Adriana Rebelo, et al.
Journal of Neurochemistry
|
September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.
Brain : a Journal of Neurology
|
June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe
Gorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.
Experimental Neurology
|
October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Matt C Danzi, Eric Powell, Adriana P Rebelo, 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.
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.
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of 6
Search research articles
Search
Showing results (51-60 of 58) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 58 results.
Journal of the Peripheral Nervous System : JPNS
|
April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Brain : a Journal of Neurology
|
May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Brain : a Journal of Neurology
|
June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
Danique Beijer, Maike F Dohrn, Adriana Rebelo, et al.
Journal of Neurochemistry
|
September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.
Brain : a Journal of Neurology
|
June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe
Gorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.
Experimental Neurology
|
October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Matt C Danzi, Eric Powell, Adriana P Rebelo, 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.
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.
Page
of 6