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European Journal of Human Genetics : EJHG
|
July 5, 2007
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
Myriam Vezain, Pascale Saugier-Veber, Judith Melki, et al.
Annals of Neurology
|
April 24, 2012
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation
Sergiu C Blumen, Stéphanie Astord, Valérie Robin, et al.
Nature Aging
|
November 27, 2023
TANGO: a placebo-controlled randomized phase 2 study of efficacy and safety of the anti-tau monoclonal antibody gosuranemab in early Alzheimer's disease
Melanie Shulman, Jessica Kong, John O'Gorman, et al.
Brain & Development
|
December 22, 2005
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, et al.
Annals of Neurology
|
July 12, 2002
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13
Louis Viollet, Annie Barois, Jean G Rebeiz, et al.
Muscle & Nerve
|
January 20, 2015
Resistance strength training exercise in children with spinal muscular atrophy
Aga Lewelt, Kristin J Krosschell, Gregory J Stoddard, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2010
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency
Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V Grant, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families
Louis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
Neurology. Genetics
|
March 16, 2017
Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related Disorders
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
Caroline Michot, Laurence Hubert, Norma B Romero, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 23) with videos related to
Sort By:
Page
of 3
European Journal of Human Genetics : EJHG
|
July 5, 2007
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
Myriam Vezain, Pascale Saugier-Veber, Judith Melki, et al.
Annals of Neurology
|
April 24, 2012
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation
Sergiu C Blumen, Stéphanie Astord, Valérie Robin, et al.
Nature Aging
|
November 27, 2023
TANGO: a placebo-controlled randomized phase 2 study of efficacy and safety of the anti-tau monoclonal antibody gosuranemab in early Alzheimer's disease
Melanie Shulman, Jessica Kong, John O'Gorman, et al.
Brain & Development
|
December 22, 2005
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, et al.
Annals of Neurology
|
July 12, 2002
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13
Louis Viollet, Annie Barois, Jean G Rebeiz, et al.
Muscle & Nerve
|
January 20, 2015
Resistance strength training exercise in children with spinal muscular atrophy
Aga Lewelt, Kristin J Krosschell, Gregory J Stoddard, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2010
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency
Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V Grant, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families
Louis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
Neurology. Genetics
|
March 16, 2017
Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related Disorders
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
Caroline Michot, Laurence Hubert, Norma B Romero, et al.
Page
of 3