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European Journal of Human Genetics, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
Journal Article
MONATSSCHRIFT KINDERHEILKUNDE, ISSN 0026-9298, 12/2015, Volume 163, Issue 12, pp. 1293 - 1301
Spinal muscular atrophy (SMA) is an autosomal recessive disease and the most common genetically linked cause of infant death. It is also one of the most... 
Swallowing and nutritional disorders | Muscle weakness | Respiratory insufficiency | Floppy infant | Muscular hypotonia | PEDIATRICS
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 08/2007, Volume 22, Issue 8, pp. 1027 - 1049
Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular... 
Standard of care | Consensus statement | Spinal muscular atrophy | COMMUNITY-ACQUIRED PNEUMONIA | LEAN BODY-MASS | HIP DISLOCATION | NEUROMUSCULAR DISORDERS | standard of care | RESPIRATORY-DISTRESS | FUNCTIONAL MOTOR SCALE | WERDNIG-HOFFMANN DISEASE | NATURAL-HISTORY | CLINICAL NEUROLOGY | consensus statement | OUTCOME MEASURES | PEDIATRICS | spinal muscular atrophy | NONINVASIVE VENTILATION | Muscular Atrophy, Spinal - diagnosis | Postoperative Complications - etiology | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Postoperative Complications - prevention & control | Respiratory Insufficiency - etiology | Respiratory Paralysis - therapy | Respiratory Paralysis - physiopathology | Deglutition Disorders - therapy | Child Nutrition Disorders - etiology | Respiratory Paralysis - etiology | Child Nutrition Disorders - physiopathology | Gait Disorders, Neurologic - physiopathology | Child Nutrition Disorders - prevention & control | Deglutition Disorders - etiology | Child | Deglutition Disorders - physiopathology | Respiratory Insufficiency - physiopathology | Diagnosis, Differential | Gastrointestinal Diseases - therapy | Respiratory Insufficiency - therapy | Consensus | Gait Disorders, Neurologic - therapy | Muscular Atrophy, Spinal - therapy | Muscular Atrophy, Spinal - complications | Gait Disorders, Neurologic - etiology | Index Medicus
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 884 - 885
Spinal muscular atrophy (SMA) is an anterior horn cell disease characterized by severe muscle atrophy and weakness,(1) traditionally divided into 4... 
TRIAL | PHENYLBUTYRATE | FUNCTIONAL MOTOR SCALE | SMN1 | CLINICAL NEUROLOGY | Muscular Atrophy, Spinal - diagnosis | Female | Male | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Humans | Index Medicus | Abridged Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1554 - 1557
Spinal muscular atrophy (SMA) is caused by deletions/mutations in SMN1. Most heterozygous SMA carriers have only one SMN1 copy in one of the alleles (1/0... 
SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | Hybrids | Chromosome rearrangements | Chromosomes | Genetic counselling | SMN protein | Spinal muscular atrophy | Index Medicus
Journal Article
BMC Genomics, ISSN 1471-2164, 06/2018, Volume 19, Issue 1, pp. 485 - 485
Journal Article