Literature DB >> 6530365

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

P Tonali, S Servidei, A Uncini, D Restuccia, G Galluzzi.   

Abstract

A report on 89 cases of proximal Spinal Muscular Atrophy with observations on the clinical features, criteria of classification and modes of inheritance. The various forms into which SMA is divided probably represent a single disease that may begin at any age and may vary in severity, due, as a rule, to an autosomal recessive gene.

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Year:  1984        PMID： 6530365     DOI： 10.1007/bf02042627

Source DB:  PubMed          Journal:  Ital J Neurol Sci        ISSN： 0392-0461


  23 in total

1.  INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY.

Authors:  V DUBOWITZ
Journal:  Brain       Date:  1964-12       Impact factor: 13.501

2.  International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data.

Authors:  A E Emery; I Hausmanowa-Petrusewicz; A M Davie; S Holloway; R Skinner; J Borkowska
Journal:  J Neurol Sci       Date:  1976-09       Impact factor: 3.181

3.  Chronic proximal spinal muscular atrophy.

Authors:  T Namba; D C Aberfeld; D Grob
Journal:  J Neurol Sci       Date:  1970-11       Impact factor: 3.181

4.  Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease.

Authors:  T L Munsat; R Woods; W Fowler; C M Pearson
Journal:  Brain       Date:  1969-03       Impact factor: 13.501

5.  Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence.

Authors:  J Pearn
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

6.  Juvenile motor neuron diseases--the sex influence in benign juvenile pseudodystrophic spinal muscular atrophy.

Authors:  I Hausmanowa-Petrusewicz; J Borkowska; J Zaremba
Journal:  Adv Neurol       Date:  1982

7.  Progressive spinal muscular atrophy with onset in infancy or early childhood.

Authors:  I Gamstorp
Journal:  Acta Paediatr Scand       Date:  1967-07

8.  Benign spinal muscular atrophy arising in childhood and adolescence.

Authors:  D Gardner-Medwin; P Hudgson; J N Walton
Journal:  J Neurol Sci       Date:  1967 Jul-Aug       Impact factor: 3.181

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

Authors:  J Pearn; P Hudgson
Journal:  Lancet       Date:  1978-05-20       Impact factor: 79.321

10.  Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?

Authors:  I Hausmanowa-Petrusewicz; J Zaremba; J Borkowska
Journal:  J Neurol Sci       Date:  1979-10       Impact factor: 3.181
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  1 in total

1.  Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.

Authors:  S Zappata; F Tiziano; G Neri; C Brahe
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132
  1 in total

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