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Brain : a Journal of Neurology
|
February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Andrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Brain Communications
|
November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Sara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
Nature Genetics
|
May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Andrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics
|
May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Andrea Cortese, Yi Zhu, Adriana P Rebelo, 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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Showing results (91-100 of 97) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 97 results.
Brain : a Journal of Neurology
|
February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Andrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Brain Communications
|
November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Sara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
Nature Genetics
|
May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Andrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics
|
May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Andrea Cortese, Yi Zhu, Adriana P Rebelo, 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 10