93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).
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Consensus Statement for Standard of Care in Spinal Muscular AtrophyDominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family.The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophyDeletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease).TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.Gender-Specific Amelioration of SMA Phenotype upon Disruption of a Deep Intronic Structure by an Oligonucleotide.Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect.
P2860
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P2860
93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).
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93rd ENMC international worksh ...... 01, Naarden, The Netherlands).
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93rd ENMC international worksh ...... 01, Naarden, The Netherlands).
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93rd ENMC international worksh ...... 01, Naarden, The Netherlands).
@en
93rd ENMC international worksh ...... 01, Naarden, The Netherlands).
@nl
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93rd ENMC international worksh ...... 01, Naarden, The Netherlands).
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93rd ENMC international worksh ...... 01, Naarden, The Netherlands).
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P1476
93rd ENMC international worksh ...... 01, Naarden, The Netherlands).
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P2093
Klaus Zerres
Sabine Rudnik-Schöneborn
P304
P356
10.1016/S0960-8966(02)00211-0
P577
2003-02-01T00:00:00Z