Literature DB >> 77364

Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset. A new spinal muscular atrophy syndrome.

J Pearn, P Hudgson.   

Abstract

A new variant of spinal muscular atrophy (S.M.A.), characterised by adolescent onset, gross hypertrophy of calves, and a slowly progressive clinical course, was found in 5 patients, 3 of them in a series of 102 cases being studied in North-East England. Biopsy and electrophysiological studies indicated the presence of chronic progressive degeneration of anterior-horn cells.

Entities:  

Mesh：

Year:  1978        PMID： 77364     DOI： 10.1016/s0140-6736(78)90910-8

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  10 in total

1.  Isolated muscle hypertrophy as a sign of radicular or peripheral nerve injury.

Authors:  H P Mattle; C W Hess; H P Ludin; M Mumenthaler
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-04       Impact factor: 10.154

2.  Becker's x-linked muscular dystrophy. Histological, enzyme-histochemical, and ultrastructural studies of two cases, originally reported by Becker.

Authors:  H H Goebel; H Prange; F Gullotta; H Kiefer; M Z Jones
Journal:  Acta Neuropathol       Date:  1979-04-12       Impact factor: 17.088

3.  Asymmetric calf hypertrophy of neurogenic origin.

Authors:  Hajnalka Merkli; Endre Pál; István Gáti
Journal:  Pathol Oncol Res       Date:  2006-12-25       Impact factor: 3.201

4.  A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

Authors:  Jordan T Gladman; Thomas W Bebee; Chris Edwards; Xueyong Wang; Zarife Sahenk; Mark M Rich; Dawn S Chandler
Journal:  Hum Mol Genet       Date:  2010-08-12       Impact factor: 6.150

5.  Juvenile proximal spinal muscular atrophy with early hypertrophy of calves.

Authors:  J M Gobernado; C Riva; A Gimeno; E García-Albea; A Anaya
Journal:  Postgrad Med J       Date:  1983-05       Impact factor: 2.401

6.  Clinical study of proximal spinal muscular atrophy. Report on 89 cases.

Authors:  P Tonali; S Servidei; A Uncini; D Restuccia; G Galluzzi
Journal:  Ital J Neurol Sci       Date:  1984-12

7.  Crural hypertrophy associated with centronuclear myopathy.

Authors:  P Bill; G Cole; N S Proctor; D Saffer; A Botes
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-06       Impact factor: 10.154

8.  A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Authors:  Eileen Workman; Luciano Saieva; Tessa L Carrel; Thomas O Crawford; Don Liu; Cathleen Lutz; Christine E Beattie; Livio Pellizzoni; Arthur H M Burghes
Journal:  Hum Mol Genet       Date:  2009-03-27       Impact factor: 6.150

9.  Muscle hypertrophy and a syndrome of continuous motor unit activity in prednisone-responsive Guillain-Barré polyneuropathy.

Authors:  C Vasilescu; M Alexianu; A Dan
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

10.  Neurogenic muscle hypertrophy. Report of two cases.

Authors:  D Pareyson; L Morandi; V Scaioli; R Marazzi; A Boiardi; A Sghirlanzoni
Journal:  J Neurol       Date:  1989-07       Impact factor: 4.849
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.