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The HUGO Journal
|
August 13, 2011
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
Brain : a Journal of Neurology
|
May 27, 2014
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Nadia Bahi-Buisson, Karine Poirier, Franck Fourniol, et al.
Molecular and Cellular Neurosciences
|
December 21, 2004
Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes
Gaëlle Friocourt, Caroline Kappeler, Yoann Saillour, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
September 24, 2017
Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis
Cyril Gitiaux, Claire Latroche, Michèle Weiss-Gayet, et al.
Human Molecular Genetics
|
May 6, 2016
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability
Hamid Meziane, Malik Khelfaoui, Noemi Morello, et al.
Plos One
|
June 26, 2008
Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus
Marika Nosten-Bertrand, Caroline Kappeler, Céline Dinocourt, et al.
Biomedicines
|
December 23, 2022
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, et al.
Annals of Clinical and Translational Neurology
|
March 9, 2019
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to <i>KCNT1</i> mutations
Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, 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.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 11, 2020
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism
Thomas Wirth, Louise Laure Mariani, Gaber Bergant, et al.
Page
of 23
Search research articles
Search
Showing results (111-120 of 226) with videos related to
Sort By:
Page
of 23
The HUGO Journal
|
August 13, 2011
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
Brain : a Journal of Neurology
|
May 27, 2014
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Nadia Bahi-Buisson, Karine Poirier, Franck Fourniol, et al.
Molecular and Cellular Neurosciences
|
December 21, 2004
Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes
Gaëlle Friocourt, Caroline Kappeler, Yoann Saillour, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
September 24, 2017
Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis
Cyril Gitiaux, Claire Latroche, Michèle Weiss-Gayet, et al.
Human Molecular Genetics
|
May 6, 2016
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability
Hamid Meziane, Malik Khelfaoui, Noemi Morello, et al.
Plos One
|
June 26, 2008
Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus
Marika Nosten-Bertrand, Caroline Kappeler, Céline Dinocourt, et al.
Biomedicines
|
December 23, 2022
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, et al.
Annals of Clinical and Translational Neurology
|
March 9, 2019
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to <i>KCNT1</i> mutations
Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, 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.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 11, 2020
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism
Thomas Wirth, Louise Laure Mariani, Gaber Bergant, et al.
Page
of 23