PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Michot, C.  et al. 2013

Finger creases lend a hand in Kabuki syndrome

Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early...
Eur. J. Med. Genet. - issue: 10 - volume: 56 - pages: 556-560.

Mali, P.  et al. 2013

Cas9 as a versatile tool for engineering biology

RNA-guided Cas9 nucleases derived from clustered regularly interspaced short palindromic repeats (CRISPR)-Cas systems have dramatically transformed our ability to edit the genomes of diverse...
Nat Methods - issue: 10 - volume: 10 - pages: 957-963.

Sanchez-Mut, JV.  et al. 2013

DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease

The central nervous system has a pattern of gene expression that is closely regulated with respect to functional and anatomical regions. DNA methylation is a major regulator of transcriptional...
Brain - issue: Pt 10 - volume: 136 - pages: 3018-3027.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Cacciagli, P.  et al. 2013

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to...
Am. J. Hum. Genet. - issue: 3 - volume: 93 - pages: 579-586.

Roudaut, C.  et al. 2013

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy

BACKGROUND: Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Roudaut, C.  et al. 2013

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy

BACKGROUND: Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Roudaut, C.  et al. 2013

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy

BACKGROUND: Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Roudaut, C.  et al. 2013

Restriction of Calpain3 Expression to the Skeletal Muscle Prevents Cardiac Toxicity and Corrects Pathology in a Murine Model of Limb-Girdle Muscular Dystrophy

Background Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Roudaut, C.  et al. 2013

Restriction of Calpain3 Expression to the Skeletal Muscle Prevents Cardiac Toxicity and Corrects Pathology in a Murine Model of Limb-Girdle Muscular Dystrophy

Background Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Roudaut, C.  et al. 2013

Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy

BACKGROUND: Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously...
Circulation - issue: 10 - volume: 128 - pages: 1094-1104.

Salort-Campana, E.  et al. 2013

Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012

Introduction. - Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on...
Rev. Neurol. - issue: 8-9 - volume: 169 - pages: 573-582.

Salort-Campana, E.  et al. 2013

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012]

INTRODUCTION: Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on...
Rev. Neurol. (Paris) - issue: 8-9 - volume: 169 - pages: 573-582.

Salort-Campana, E.  et al. 2013

Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012

Introduction. - Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on...
Rev. Neurol. - issue: 8-9 - volume: 169 - pages: 573-582.

Salort-Campana, E.  et al. 2013

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012]

INTRODUCTION: Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on...
Rev. Neurol. (Paris) - issue: 8-9 - volume: 169 - pages: 573-582.

Humbertclaude, V.  et al. 2013

Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases

The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD...
Rev. Neurol. - issue: 8-9 - volume: 169 - pages: 583-594.