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Biology Open
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April 24, 2016
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia
Dörte Poburski, Josefine Barbara Boerner, Michel Koenig, et al.
Journal of Neurology
|
September 24, 2022
The inherited cerebellar ataxias: an update
Giulia Coarelli, Thomas Wirth, Christine Tranchant, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
October 26, 2017
Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay
Julie Miro, Cyril F Bourgeois, Mireille Claustres, et al.
Muscle & Nerve
|
July 21, 2009
Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2
José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, et al.
Human Molecular Genetics
|
December 3, 2004
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
Marie Fernet, Moez Gribaa, Mustafa A M Salih, et al.
The Journal of Molecular Diagnostics : JMD
|
July 19, 2016
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies
Melissa Alame, Delphine Lacourt, Reda Zenagui, et al.
Scientific Reports
|
February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical context
Gema García-García, David Baux, Valérie Faugère, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Human Molecular Genetics
|
March 19, 2004
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
Hervé Seznec, Delphine Simon, Laurent Monassier, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
February 27, 2004
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
Delphine Simon, Hervé Seznec, Anne Gansmuller, et al.
Page
of 13
Search research articles
Search
Showing results (11-20 of 126) with videos related to
Sort By:
Page
of 13
Biology Open
|
April 24, 2016
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia
Dörte Poburski, Josefine Barbara Boerner, Michel Koenig, et al.
Journal of Neurology
|
September 24, 2022
The inherited cerebellar ataxias: an update
Giulia Coarelli, Thomas Wirth, Christine Tranchant, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
October 26, 2017
Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay
Julie Miro, Cyril F Bourgeois, Mireille Claustres, et al.
Muscle & Nerve
|
July 21, 2009
Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2
José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, et al.
Human Molecular Genetics
|
December 3, 2004
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
Marie Fernet, Moez Gribaa, Mustafa A M Salih, et al.
The Journal of Molecular Diagnostics : JMD
|
July 19, 2016
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies
Melissa Alame, Delphine Lacourt, Reda Zenagui, et al.
Scientific Reports
|
February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical context
Gema García-García, David Baux, Valérie Faugère, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Human Molecular Genetics
|
March 19, 2004
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
Hervé Seznec, Delphine Simon, Laurent Monassier, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
February 27, 2004
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
Delphine Simon, Hervé Seznec, Anne Gansmuller, et al.
Page
of 13