Literature DB >> 4078864

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.

I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska.   

Abstract

Results obtained from a study of 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence suggest that the condition is not as homogeneous as it was previously thought. A tentative classification based on our results is proposed. Estimates of genetic risks are provided, taking into account the sex and age at clinical onset. In our opinion these factors are more reliable than the data hitherto available because they are based on a considerably larger series.

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Year:  1985        PMID： 4078864      PMCID： PMC1049477          DOI： 10.1136/jmg.22.5.350

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 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.  [Genetics of child spinal amyotrophy : existence of 2 autosomal recessive forms].

Authors:  J Feingold; M Arthuis; J Celers
Journal:  Ann Genet       Date:  1977-03

3.  The genetic identity of acute infantile spinal muscular atrophy.

Authors:  J H Pearn; C O Carter; J Wilson
Journal:  Brain       Date:  1973-09       Impact factor: 13.501

4.  Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence.

Authors:  I Hausmanowa-Petrusewicz; J Zaremba; J Borkowska; W Szirkowiec
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318

5.  Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy.

Authors:  I Hausmanowa-Petrusewicz; J Zaremba; J Borkowska; J Prot
Journal:  J Neurol       Date:  1976-10-04       Impact factor: 4.849

6.  International collaborative study of the spinal muscular atrophies. Part 2. Analysis of genetic data.

Authors:  A E Emery; A M Davie; S Holloway; R skinner
Journal:  J Neurol Sci       Date:  1976-12       Impact factor: 3.181

7.  Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease).

Authors:  K Fried; A E Emery
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

8.  A clinical and genetic study of chronic proximal spinal muscular atrophy.

Authors:  S Bundey; R E Lovelace
Journal:  Brain       Date:  1975-09       Impact factor: 13.501

9.  A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients.

Authors:  J Pearn; S Bundley; C O Carter; J Wilson; D Gardner-Medwin; J N Walton
Journal:  J Neurol Sci       Date:  1978-07       Impact factor: 3.181

10.  A clinical study of chronic childhood spinal muscular atrophy. A review of 141 cases.

Authors:  J H Pearn; D Gardner-Medwin; J Wilson
Journal:  J Neurol Sci       Date:  1978-08       Impact factor: 3.181
  10 in total
  7 in total

1.  Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

Authors:  J Melki; S Abdelhak; P Burlet; V Raclin; J Kaplan; R Spiegel; S Gilgenkrantz; N Philip; M L Chauvet; Y Dumez
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

2.  Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Authors:  Markus Feldkötter; Verena Schwarzer; Radu Wirth; Thomas F Wienker; Brunhilde Wirth
Journal:  Am J Hum Genet       Date:  2001-12-21       Impact factor: 11.025

3.  Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.

Authors:  P Sheth; S Abdelhak; M F Bachelot; P Burlet; M Masset; D Hillaire; F Clerget-Darpoux; J Frézal; G M Lathrop; A Munnich
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

Review 4.  The Genetics of Spinal Muscular Atrophy: Progress and Challenges.

Authors:  Michelle A Farrar; Matthew C Kiernan
Journal:  Neurotherapeutics       Date:  2015-04       Impact factor: 7.620

5.  Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.

Authors:  A M Theodosiou; K E Morrison; A M Nesbit; R J Daniels; L Campbell; M J Francis; Z Christodoulou; K E Davies
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

6.  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

7.  Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy.

Authors:  Marc-Olivier Deguise; Yves De Repentigny; Alexandra Tierney; Ariane Beauvais; Jean Michaud; Lucia Chehade; Mohamed Thabet; Brittany Paul; Aoife Reilly; Sabrina Gagnon; Jean-Marc Renaud; Rashmi Kothary
Journal:  EBioMedicine       Date:  2020-04-24       Impact factor: 8.143
  7 in total

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