Literature DB >> 8900246

Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.

S Rudnik-Schöneborn, K Zerres, E Hahnen, G Meng, T Voit, F Hanefeld, B Wirth.   

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Year:  1996        PMID： 8900246      PMCID： PMC1914844     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

1.  Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

Authors:  J M Cobben; G van der Steege; P Grootscholten; M de Visser; H Scheffer; C H Buys
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

2.  Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Authors:  S Rudnik-Schöneborn; B Wirth; K Zerres
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  Identification and characterization of a spinal muscular atrophy-determining gene.

Authors:  S Lefebvre; L Bürglen; S Reboullet; O Clermont; P Burlet; L Viollet; B Benichou; C Cruaud; P Millasseau; M Zeviani
Journal:  Cell       Date:  1995-01-13       Impact factor: 41.582

4.  Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Authors:  E Hahnen; R Forkert; C Marke; S Rudnik-Schöneborn; J Schönling; K Zerres; B Wirth
Journal:  Hum Mol Genet       Date:  1995-10       Impact factor: 6.150

5.  No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers.

Authors:  K Kausch; C R Müller; T Grimm; K Ricker; M Rietschel; S Rudnik-Schöneborn; K Zerres
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132
  5 in total
  4 in total

1.  De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Authors:  B Wirth; T Schmidt; E Hahnen; S Rudnik-Schöneborn; M Krawczak; B Müller-Myhsok; J Schönling; K Zerres
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  Calpainopathy: how broad is the spectrum of clinical variability?

Authors:  Alessandra Starling; Flavia de Paula; Helga Silva; Mariz Vainzof; Mayana Zatz
Journal:  J Mol Neurosci       Date:  2003       Impact factor: 3.444

Review 3.  Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

Authors:  Fiammetta Vanoli; Paola Rinchetti; Francesca Porro; Valeria Parente; Stefania Corti
Journal:  J Cell Mol Med       Date:  2015-06-20       Impact factor: 5.310

4.  Survival Motor Neuron (SMN) protein is required for normal mouse liver development.

Authors:  Eva Szunyogova; Haiyan Zhou; Gillian K Maxwell; Rachael A Powis; Francesco Muntoni; Thomas H Gillingwater; Simon H Parson
Journal:  Sci Rep       Date:  2016-10-04       Impact factor: 4.379
  4 in total

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