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Neuromuscular Disorders : NMD
|
March 26, 2026
Phenotypic characterization of dominantly inherited distal nebulin myopathy
Franclo Henning, Kireshnee Naidu, Pearl Thomas, et al.
Orphanet Journal of Rare Diseases
|
November 4, 2017
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Neurogenetics
|
June 29, 2026
Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family
Muhammad Ayaz, Ibrar Khan, Sheraz Ahmed, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 23, 2018
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology
Flavia Niccolini, Niccolo E Mencacci, Tayyabah Yousaf, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
Fatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Brain : a Journal of Neurology
|
June 20, 2023
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
Menelaos Pipis, Seongsik Won, Roy Poh, et al.
Journal of Medical Genetics
|
December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorder
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Neurogenetics
|
November 3, 2021
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
Berardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Genes
|
February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits
Clarissa Rocca, David Murphy, Chris Clarkson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Partial loss of <i>FITM2</i> function causes hereditary spastic paraplegia
Ainara Salazar-Villacorta, Laura M Bond, Leehyeon Kim, et al.
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Search research articles
Search
Showing results (41-50 of 176) with videos related to
Sort By:
Page
of 18
Neuromuscular Disorders : NMD
|
March 26, 2026
Phenotypic characterization of dominantly inherited distal nebulin myopathy
Franclo Henning, Kireshnee Naidu, Pearl Thomas, et al.
Orphanet Journal of Rare Diseases
|
November 4, 2017
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Neurogenetics
|
June 29, 2026
Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family
Muhammad Ayaz, Ibrar Khan, Sheraz Ahmed, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 23, 2018
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology
Flavia Niccolini, Niccolo E Mencacci, Tayyabah Yousaf, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
Fatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Brain : a Journal of Neurology
|
June 20, 2023
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
Menelaos Pipis, Seongsik Won, Roy Poh, et al.
Journal of Medical Genetics
|
December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorder
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Neurogenetics
|
November 3, 2021
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
Berardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Genes
|
February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits
Clarissa Rocca, David Murphy, Chris Clarkson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Partial loss of <i>FITM2</i> function causes hereditary spastic paraplegia
Ainara Salazar-Villacorta, Laura M Bond, Leehyeon Kim, et al.
Page
of 18