Literature DB >> 2614795

A hungarian study on Werdnig-Hoffmann disease.

A Czeizel1, J Hamula.   

Abstract

The prevalence of Werdnig-Hoffmann disease was found to be 0.66 per 10,000 livebirths in Hungary from 1973 to 1980. However, the true prevalence is estimated to be 1 per 10,000 livebirths, which exceeds the level of a previously published English study. There was no higher fetal death rate in previous and subsequent pregnancies of index patients' mothers. The occurrence in sibs was 32%, probably because of greater ascertainment in families with more than one affected child.

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Year:  1989        PMID： 2614795      PMCID： PMC1015756          DOI： 10.1136/jmg.26.12.761

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


  9 in total

1.  The occurrence of consanguineous marriages in Hungary.

Authors:  A Czeizel; L Bodnár; G Illei; A Molnár
Journal:  Hum Hered       Date:  1976       Impact factor: 0.444

2.  High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel.

Authors:  K Fried; G Mundel
Journal:  Clin Genet       Date:  1977-10       Impact factor: 4.438

3.  The genetic component in child mortality.

Authors:  D F Roberts; J Chavez; S D Court
Journal:  Arch Dis Child       Date:  1970-02       Impact factor: 3.791

4.  The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.

Authors:  J H Pearn
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

5.  Werdnig-Hoffmann disease on Reunion Island: a founder effect?

Authors:  T Schaap
Journal:  Clin Genet       Date:  1985-06       Impact factor: 4.438

6.  Cases of a Genetic Counselling Clinic.

Authors:  A Czeizel; J Métneki; M Osztovics
Journal:  Acta Paediatr Acad Sci Hung       Date:  1980

Review 7.  The nosology of the spinal muscular atrophies.

Authors:  A E Emery
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

8.  Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island.

Authors:  M J Pascalet-Guidon; E Bois; J Feingold; J F Mattei; J C Combes; C Hamon
Journal:  Clin Genet       Date:  1984-07       Impact factor: 4.438

9.  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
  9 in total
  20 in total

1.  High incidence of acute infantile spinal atrophy in Hungary.

Authors:  A Czeizel
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Authors:  G Matthijs; E Schollen; E Legius; K Devriendt; N Goemans; H Kayserili; M Y Apäk; J J Cassiman
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

3.  A novel nuclear structure containing the survival of motor neurons protein.

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Journal:  EMBO J       Date:  1996-07-15       Impact factor: 11.598

4.  The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.

Authors:  L Bürglen; T Seroz; P Miniou; S Lefebvre; P Burlet; A Munnich; E V Pequignot; J M Egly; J Melki
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

5.  Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice.

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Journal:  Mol Ther       Date:  2014-05-12       Impact factor: 11.454

6.  SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

Authors:  Kathryn J Swoboda; Charles B Scott; Thomas O Crawford; Louise R Simard; Sandra P Reyna; Kristin J Krosschell; Gyula Acsadi; Bakri Elsheik; Mary K Schroth; Guy D'Anjou; Bernard LaSalle; Thomas W Prior; Susan L Sorenson; Jo Anne Maczulski; Mark B Bromberg; Gary M Chan; John T Kissel
Journal:  PLoS One       Date:  2010-08-19       Impact factor: 3.240

Review 7.  RNA processing defects associated with diseases of the motor neuron.

Authors:  Stephen J Kolb; Scott Sutton; Daniel R Schoenberg
Journal:  Muscle Nerve       Date:  2010-01       Impact factor: 3.217

8.  Vitamin D intake is inadequate in spinal muscular atrophy type I cohort: correlations with bone health.

Authors:  Jennifer Aton; Rebecca Hurst Davis; Kristine C Jordan; Charles B Scott; Kathryn J Swoboda
Journal:  J Child Neurol       Date:  2013-01-17       Impact factor: 1.987

9.  Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen).

Authors:  A Thieme; B Mitulla; F Schulze; A W Spiegler
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

10.  Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study.

Authors:  A Thieme; B Mitulla; F Schulze; A W Spiegler
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132
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