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Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
The New England Journal of Medicine
|
December 14, 2022
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
David Pellerin, Matt C Danzi, Carlo Wilke, 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.
Molecular Psychiatry
|
January 12, 2024
Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition
Dayana Hayek, Gabriel Ziegler, Luca Kleineidam, et al.
Brain : a Journal of Neurology
|
January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Riccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Human Mutation
|
November 1, 2012
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats
Julie van der Zee, Ilse Gijselinck, Lubina Dillen, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 25, 2019
Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia
Lieke H H Meeter, Rebecca M E Steketee, Dina Salkovic, et al.
The Lancet Regional Health. Europe
|
July 18, 2025
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Mónica Ferreira, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Neuron
|
January 7, 2022
Soluble TAM receptors sAXL and sTyro3 predict structural and functional protection in Alzheimer's disease
Frederic Brosseron, Anne Maass, Luca Kleineidam, et al.
Page
of 52
Search research articles
Search
Showing results (481-490 of 511) with videos related to
Sort By:
Page
of 52
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
The New England Journal of Medicine
|
December 14, 2022
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
David Pellerin, Matt C Danzi, Carlo Wilke, 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.
Molecular Psychiatry
|
January 12, 2024
Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition
Dayana Hayek, Gabriel Ziegler, Luca Kleineidam, et al.
Brain : a Journal of Neurology
|
January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Riccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Human Mutation
|
November 1, 2012
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats
Julie van der Zee, Ilse Gijselinck, Lubina Dillen, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 25, 2019
Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia
Lieke H H Meeter, Rebecca M E Steketee, Dina Salkovic, et al.
The Lancet Regional Health. Europe
|
July 18, 2025
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
Moritz Berger, Hector Garcia-Moreno, Mónica Ferreira, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Neuron
|
January 7, 2022
Soluble TAM receptors sAXL and sTyro3 predict structural and functional protection in Alzheimer's disease
Frederic Brosseron, Anne Maass, Luca Kleineidam, et al.
Page
of 52