Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Neuromuscular Disorders

Volumn 23, Issue 6, 2013, Pages 461-468

  Stalpers, Xenia L ^a   Verrips, Aad ^a   Poll The, Bwee Tien ^b   Cobben, Jan Maarten ^b   Snoeck, Irina N ^c   de Coo, Irenaeus F M ^d   Brooks, Alice ^d   Bulk, Saskia ^e   Gooskens, Rob ^e   Fock, Annemarie ^f   Verschuuren Bemelmans, Corien ^f   Sinke, Richard J ^f   de Visser, Marianne ^g   Lemmink, Henny H ^f  

^a CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c JULIANA CHILDREN S HOSPITAL   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

DSMA1; IGHMBP2; SMARD1; Spinal muscular atrophy with respiratory distress type 1

Indexed keywords

GLUCOSE REGULATED PROTEIN 78; IMMUNOGLOBULIN HEAVY CHAIN MU BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; AUTONOMIC NERVOUS SYSTEM FUNCTION; BLOOD ANALYSIS; BRAIN ELECTROPHYSIOLOGY; CHROMOSOME 11Q; CLINICAL ARTICLE; CLINICAL FEATURE; DIAPHRAGM PARALYSIS; DNA ISOLATION; DNA SEQUENCE; ELECTROMYOGRAPHY; EXON; FEMALE; FOOT MALFORMATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTENSION; IGHMBP2 GENE; INFANT; JOINT CONTRACTURE; LYMPHOCYTE; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NERVE CONDUCTION; NERVE POTENTIAL; NETHERLANDS; NONSENSE MUTATION; ONSET AGE; PARESIS; POLYMERASE CHAIN REACTION; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RNA SPLICING; SENSORY NERVE; SOCIAL INTERACTION; STOP CODON; SWEATING; TACHYCARDIA; TENDON REFLEX; URINE RETENTION; WERDNIG HOFFMANN DISEASE;

CHILD, PRESCHOOL; CHROMOSOME MAPPING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUSCLE WEAKNESS; MUSCULAR ATROPHY, SPINAL; MUTATION; NETHERLANDS; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; TRANSCRIPTION FACTORS;

EID: 84878653760     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.03.002     Document Type: Article

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