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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
Monatsschrift Kinderheilkunde, ISSN 0026-9298, 12/2015, Volume 163, Issue 12, p. 1293
Die spinale Muskelatrophie (SMA) ist eine der haufigsten "seltenen" neuromuskularen Erkrankungen sie wird autosomal-rezessiv vererbt und stellt die haufigste... 
Patient outcomes | Infants | Diagnosis | Spinal muscular atrophy
Journal Article
Jornal de Pediatria, ISSN 0021-7557, 07/2010, Volume 86, Issue 4, pp. 261 - 270
Objective: To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular atrophy (SMA), thereby helping... 
Therapy | SMN1 gene | Motor neuron | Valproic acid | SMN protein | Spinal muscular atrophy | SURVIVAL | CELLS | therapy | MOUSE | valproic acid | MODEL | NATURAL-HISTORY | IDENTIFICATION | VALPROIC ACID INCREASES | MOTOR-NEURON PROTEIN | GENE | motor neuron | PEDIATRICS
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 | Brief Communication
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, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
Journal Article
Neurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 890 - 897
OBJECTIVE:To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense... 
PUNCTURE HEADACHE | ANTISENSE OLIGONUCLEOTIDE | FUNCTIONAL MOTOR SCALE | CLINICAL NEUROLOGY | Injections, Spinal | Muscular Atrophy, Spinal - diagnosis | Follow-Up Studies | Humans | Child, Preschool | Male | Dose-Response Relationship, Drug | Adolescent | Female | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Child | Cohort Studies | 324 | 117 | 227 | 252
Journal Article