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Annals of Clinical and Translational Neurology
|
April 21, 2020
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Aurélien Perrin, Corinne Metay, Marcello Villanova, et al.
JAMA Neurology
|
June 19, 2018
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders
Solveig Montaut, Christine Tranchant, Nathalie Drouot, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
June 1, 2004
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice
Joseph P Sarsero, Lingli Li, Timothy P Holloway, et al.
The Journal of Molecular Diagnostics : JMD
|
April 25, 2018
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
Kevin Yauy, David Baux, Henri Pegeot, et al.
Brain : a Journal of Neurology
|
January 23, 2004
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, et al.
Brain : a Journal of Neurology
|
September 25, 2003
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies
Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, et al.
Annals of Clinical and Translational Neurology
|
July 27, 2021
Novel dominant distal titinopathy phenotype associated with copy number variation
Aurélien Perrin, Raul Juntas Morales, Françoise Chapon, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
May 25, 2010
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency
Catarina M Quinzii, Luis C López, Robert W Gilkerson, et al.
Journal of Neurology
|
October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxia
Claire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
Scientific Reports
|
November 26, 2025
Probing ultrafast foam homogenization with grating-based X-ray dark-field imaging
Leonard Wegert, Constantin Rauch, Stephan Schreiner, et al.
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of 13
Search research articles
Search
Showing results (61-70 of 126) with videos related to
Sort By:
Page
of 13
Annals of Clinical and Translational Neurology
|
April 21, 2020
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Aurélien Perrin, Corinne Metay, Marcello Villanova, et al.
JAMA Neurology
|
June 19, 2018
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders
Solveig Montaut, Christine Tranchant, Nathalie Drouot, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
June 1, 2004
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice
Joseph P Sarsero, Lingli Li, Timothy P Holloway, et al.
The Journal of Molecular Diagnostics : JMD
|
April 25, 2018
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
Kevin Yauy, David Baux, Henri Pegeot, et al.
Brain : a Journal of Neurology
|
January 23, 2004
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, et al.
Brain : a Journal of Neurology
|
September 25, 2003
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies
Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, et al.
Annals of Clinical and Translational Neurology
|
July 27, 2021
Novel dominant distal titinopathy phenotype associated with copy number variation
Aurélien Perrin, Raul Juntas Morales, Françoise Chapon, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
May 25, 2010
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency
Catarina M Quinzii, Luis C López, Robert W Gilkerson, et al.
Journal of Neurology
|
October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxia
Claire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
Scientific Reports
|
November 26, 2025
Probing ultrafast foam homogenization with grating-based X-ray dark-field imaging
Leonard Wegert, Constantin Rauch, Stephan Schreiner, et al.
Page
of 13