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9 in total

1. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

Authors: Sini Penttilä; Manu Jokela; Peter Hackman; Anna Maija Saukkonen; Jari Toivanen; Bjarne Udd
Journal: Eur J Hum Genet Date: 2012-04-25 Impact factor: 4.246

2. Gender-Specific Amelioration of SMA Phenotype upon Disruption of a Deep Intronic Structure by an Oligonucleotide.

Authors: Matthew D Howell; Eric W Ottesen; Natalia N Singh; Rachel L Anderson; Ravindra N Singh
Journal: Mol Ther Date: 2017-04-13 Impact factor: 11.454

3. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

Authors: M B Harms; P Allred; R Gardner; J A Fernandes Filho; J Florence; A Pestronk; M Al-Lozi; R H Baloh
Journal: Neurology Date: 2010-08-10 Impact factor: 9.910

4. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Authors: Isabelle Maystadt; René Rezsöhazy; Martine Barkats; Sandra Duque; Pascal Vannuffel; Sophie Remacle; Barbara Lambert; Mustapha Najimi; Etienne Sokal; Arnold Munnich; Louis Viollet; Christine Verellen-Dumoulin
Journal: Am J Hum Genet Date: 2007-05-16 Impact factor: 11.025

9. Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy.

Authors: Eric W Ottesen; Matthew D Howell; Natalia N Singh; Joonbae Seo; Elizabeth M Whitley; Ravindra N Singh
Journal: Sci Rep Date: 2016-02-02 Impact factor: 4.379

9 in total

93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).

1. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

2. Gender-Specific Amelioration of SMA Phenotype upon Disruption of a Deep Intronic Structure by an Oligonucleotide.

3. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

4. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

5. Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family.

6. Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

7. Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey.

8. Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.

9. Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy.