Literature DB >> 1845352

Chaos in classification of the spinal muscular atrophies of childhood.

V Dubowitz.   

Abstract

Entities:  

Mesh：

Year:  1991        PMID： 1845352     DOI： 10.1016/0960-8966(91)90051-s

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  17 in total

1.  Spinal muscular atrophy--type I.

Authors:  M K M Hardart; R D Truog
Journal:  Arch Dis Child       Date:  2003-10       Impact factor: 3.791

2.  Genetic Modifiers for Neuromuscular Diseases.

Authors:  Kay-Marie Lamar; Elizabeth M McNally
Journal:  J Neuromuscul Dis       Date:  2014

3.  Phenotypic heterogeneity and the single gene.

Authors:  G K Suthers; K E Davies
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

4.  Spinal muscular atrophy--a clinicopathologic analysis.

Authors:  V V Radhakrishnan; M D Nair; A Kuruvilla; K Radhakrishnan; R Anandam
Journal:  Indian J Pediatr       Date:  1997 Sep-Oct       Impact factor: 1.967

5.  Linkage mapping of the spinal muscular atrophy gene.

Authors:  A H Burghes; S E Ingraham; Z Kóte-Jarai; S Rosenfeld; N Herta; N Nadkarni; C J DiDonato; J Carpten; O Hurko; J Florence
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

6.  Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.

Authors:  L R Simard; M-C Bélanger; S Morissette; M Wride; T W Prior; K J Swoboda
Journal:  Neurology       Date:  2007-02-06       Impact factor: 9.910

7.  Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

Authors:  Juliane Ramser; Mary Ellen Ahearn; Claus Lenski; Kemal O Yariz; Heide Hellebrand; Michael von Rhein; Robin D Clark; Rita K Schmutzler; Peter Lichtner; Eric P Hoffman; Alfons Meindl; Lisa Baumbach-Reardon
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

8.  Prenatal prediction of spinal muscular atrophy.

Authors:  R J Daniels; G K Suthers; K E Morrison; N H Thomas; M J Francis; C G Mathew; S Loughlin; A Heiberg; D Wood; V Dubowitz
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

9.  Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).

Authors:  K E Morrison; R J Daniels; G K Suthers; G A Flynn; M J Francis; P K Grewal; C Dennis; V Buckle; J Ignatius; V Dubowitz
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

10.  An observational study of functional abilities in infants, children, and adults with type 1 SMA.

Authors:  Marika Pane; Concetta Palermo; Sonia Messina; Valeria A Sansone; Claudio Bruno; Michela Catteruccia; Maria Sframeli; Emilio Albamonte; Marina Pedemonte; Adele D'Amico; Giorgia Brigati; Roberto de Sanctis; Giorgia Coratti; Simona Lucibello; Enrico Bertini; Giuseppe Vita; Francesco Danilo Tiziano; Eugenio Mercuri
Journal:  Neurology       Date:  2018-07-25       Impact factor: 9.910
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