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Human Genetics
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May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 8, 2026
Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort
Teije H van Prooije, Maartje Pennings, Roderick P P W M Maas, et al.
European Journal of Human Genetics : EJHG
|
September 7, 2019
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Maartje Pennings, Meyke I Schouten, Judith van Gaalen, et al.
Annals of Neurology
|
November 14, 2023
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
Jennifer Faber, Moritz Berger, Carlo Wilke, et al.
Ebiomedicine
|
December 24, 2025
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment
Hannah Baumeister, Philipp Wegner, Mónica Ferreira, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 21, 2024
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
Thiago Junqueira Ribeiro Rezende, Isaac Adanyaguh, Orlando G P Barsottini, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 10, 2023
Stage-dependent biomarker changes in spinocerebellar ataxia type 3
Jennifer Faber, Moritz Berger, Wilke Carlo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 11, 2026
A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia
Jason W Robertson, Isaac Adanyeguh, David J Arpin, et al.
Acta Neuropathologica
|
October 14, 2024
Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy
Ellen Gelpi, Raphael Reinecke, Carles Gaig, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Monica Ferreira, et al.
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Search research articles
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Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
Human Genetics
|
May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 8, 2026
Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort
Teije H van Prooije, Maartje Pennings, Roderick P P W M Maas, et al.
European Journal of Human Genetics : EJHG
|
September 7, 2019
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Maartje Pennings, Meyke I Schouten, Judith van Gaalen, et al.
Annals of Neurology
|
November 14, 2023
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
Jennifer Faber, Moritz Berger, Carlo Wilke, et al.
Ebiomedicine
|
December 24, 2025
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment
Hannah Baumeister, Philipp Wegner, Mónica Ferreira, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 21, 2024
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
Thiago Junqueira Ribeiro Rezende, Isaac Adanyaguh, Orlando G P Barsottini, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 10, 2023
Stage-dependent biomarker changes in spinocerebellar ataxia type 3
Jennifer Faber, Moritz Berger, Wilke Carlo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 11, 2026
A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia
Jason W Robertson, Isaac Adanyeguh, David J Arpin, et al.
Acta Neuropathologica
|
October 14, 2024
Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy
Ellen Gelpi, Raphael Reinecke, Carles Gaig, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Monica Ferreira, et al.
Page
of 5