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Annals of Clinical and Translational Neurology
|
August 20, 2021
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8
Diane Doummar, Marco Treven, Leila Qebibo, et al.
Neuroepidemiology
|
January 10, 2015
Epidemiology of amyotrophic lateral sclerosis and effect of riluzole on disease course
Hakan Cetin, Jakob Rath, Judith Füzi, et al.
Plos One
|
September 17, 2013
RBFOX1 and RBFOX3 mutations in rolandic epilepsy
Dennis Lal, Eva M Reinthaler, Janine Altmüller, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
April 23, 2020
The TGF-b/SOX4 axis and ROS-driven autophagy co-mediate CD39 expression in regulatory T-cells
Marlene C Gerner, Liesa S Ziegler, Ralf L J Schmidt, et al.
Gene
|
April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases
Ponghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, et al.
Journal of Medical Genetics
|
February 23, 2020
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
Martin Krenn, Matias Wagner, Christoph Hotzy, et al.
Journal of Neuromuscular Diseases
|
October 22, 2025
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness
Omar Keritam, Philipp Haas, Sigrid Klotz, et al.
European Journal of Human Genetics : EJHG
|
January 24, 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
Dheeraj R Bobbili, Dennis Lal, Patrick May, et al.
Journal of Neurology
|
January 17, 2019
High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria
Raffi Topakian, Fritz Zimprich, Stephan Iglseder, et al.
Journal of Neurology
|
December 21, 2017
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum
Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, et al.
Page
of 11
Search research articles
Search
Showing results (51-60 of 103) with videos related to
Sort By:
Page
of 11
Annals of Clinical and Translational Neurology
|
August 20, 2021
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8
Diane Doummar, Marco Treven, Leila Qebibo, et al.
Neuroepidemiology
|
January 10, 2015
Epidemiology of amyotrophic lateral sclerosis and effect of riluzole on disease course
Hakan Cetin, Jakob Rath, Judith Füzi, et al.
Plos One
|
September 17, 2013
RBFOX1 and RBFOX3 mutations in rolandic epilepsy
Dennis Lal, Eva M Reinthaler, Janine Altmüller, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
April 23, 2020
The TGF-b/SOX4 axis and ROS-driven autophagy co-mediate CD39 expression in regulatory T-cells
Marlene C Gerner, Liesa S Ziegler, Ralf L J Schmidt, et al.
Gene
|
April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases
Ponghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, et al.
Journal of Medical Genetics
|
February 23, 2020
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
Martin Krenn, Matias Wagner, Christoph Hotzy, et al.
Journal of Neuromuscular Diseases
|
October 22, 2025
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness
Omar Keritam, Philipp Haas, Sigrid Klotz, et al.
European Journal of Human Genetics : EJHG
|
January 24, 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
Dheeraj R Bobbili, Dennis Lal, Patrick May, et al.
Journal of Neurology
|
January 17, 2019
High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria
Raffi Topakian, Fritz Zimprich, Stephan Iglseder, et al.
Journal of Neurology
|
December 21, 2017
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum
Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, et al.
Page
of 11