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Critical Care Medicine, ISSN 0090-3493, 02/2001, Volume 29, Issue 2, pp. 272 - 276
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1206 - 1216
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2013, Volume 21, Issue 6, pp. 643 - 652
Spinal muscular atrophy (SMA) is the leading genetic cause of early childhood death worldwide and no therapy is available today. Many drugs, especially histone... 
SMN2 | neuromuscular disease | spinal muscular atrophy | therapy HDAC inhibitors | JNJ-26481585 | VPA | SURVIVAL | HISTONE DEACETYLASE INHIBITOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINAL-MUSCULAR-ATROPHY | PATHOLOGY | CARDIAC DEFECTS | IDENTIFICATION | VALPROIC ACID INCREASES | SKELETAL-MUSCLE | MOUSE MODEL | GENETICS & HEREDITY | NEUROMUSCULAR-JUNCTION | Organ Specificity - drug effects | Spinal Cord - drug effects | Spinal Cord - metabolism | Neuromuscular Junction - drug effects | Neuromuscular Junction - metabolism | Humans | Hydroxamic Acids - adverse effects | Body Weight - drug effects | Motor Activity - drug effects | Brain - metabolism | Dose-Response Relationship, Drug | Spinal Cord - pathology | Muscle, Skeletal - drug effects | Hydroxamic Acids - pharmacology | Neuromuscular Junction - pathology | Fibroblasts - metabolism | Muscle, Skeletal - blood supply | SMN Complex Proteins - metabolism | Muscular Atrophy, Spinal - metabolism | Cells, Cultured | Treatment Outcome | Fibroblasts - pathology | Muscular Atrophy, Spinal - pathology | Brain - drug effects | Up-Regulation - drug effects | Phenotype | Animals | Fibroblasts - drug effects | Survival Analysis | Brain - pathology | Histone Deacetylase Inhibitors - pharmacology | Hydroxamic Acids - therapeutic use | Muscular Atrophy, Spinal - drug therapy | Histone Deacetylase Inhibitors - therapeutic use | Mice | Muscle, Skeletal - pathology | Histone deacetylase | Disease | Genes | SMN protein | Clinical trials | Drug screening | Spinal muscular atrophy | Proteins | Genotype & phenotype | Autopsy | Intestine | Genetics | Children | Myelin P0 protein | Heart failure | Phenotypes | Cardiac muscle | Limiting factors | Valproic acid | Patients | Skeletal muscle | Musculoskeletal system | Ostomy | Life span | Cell lines | Death | Mutation | Cancer | Index Medicus
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 05/2016, Volume 73, Issue 10, pp. 2089 - 2104
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 537 - 549
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 181 - 190
Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms... 
HUTTERITE POPULATION | COMPLEX | TRANSPORT | MUTANTS | DANON-DISEASE | GENE | GENETICS & HEREDITY | COMPONENTS | LINKAGE ANALYSIS | GOLGI | IDENTIFICATION | Sequence Deletion | Vesicular Transport Proteins - metabolism | Humans | Endoplasmic Reticulum - metabolism | Male | Multiprotein Complexes - genetics | Golgi Apparatus - pathology | Syria | Intellectual Disability - genetics | Exome | Young Adult | Endoplasmic Reticulum - pathology | Multiprotein Complexes - metabolism | Lysosomes - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Adult | Female | Ataxia - genetics | Muscular Dystrophies, Limb-Girdle - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | RNA Splice Sites | Creatine Kinase - blood | Endoplasmic Reticulum - genetics | Movement Disorders - pathology | Vesicular Transport Proteins - genetics | Chromosome Mapping | Muscular Diseases - pathology | Protein Transport | Homozygote | Pedigree | Adolescent | Lysosome-Associated Membrane Glycoproteins - genetics | Protein Binding | Golgi Apparatus - metabolism | Consanguinity | Movement Disorders - genetics | Muscular Diseases - genetics | Lysosomal-Associated Membrane Protein 2 | Golgi Apparatus - genetics | Gene mutations | Physiological aspects | Child development deviations | Muscle diseases | Genetic aspects | Research | Developmental disabilities | Learning disabilities | Genomes | Glycoproteins | Mutation | Motor ability | Index Medicus | Report
Journal Article