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Literature DB >> 4774536

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

J H Pearn.

Abstract

Entities: Disease

Mesh：

Year: 1973 PMID： 4774536 PMCID： PMC1013030 DOI： 10.1136/jmg.10.3.260

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

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10 in total

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6. The genetic component in child mortality.

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7. A new genetic variant of the spinal muscular atrophies in infancy.

Authors: H Zellweger; E Hanhart; H J Schneider
Journal: J Med Genet Date: 1972-12 Impact factor: 6.318

8. Norms for four standard developmental milestones by sex, social class and place in family.

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

10. Adenosine deaminase (ADA) polymorphism in Northern England.

Authors: S S Papiha; D F Roberts
Journal: Humangenetik Date: 1972

10 in total

33 in total

1. SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy.

Authors: Chitra Iyer; Xueqian Wang; Samantha R Renusch; Sandra I Duque; Allison M Wehr; Xiaokui-Molly Mo; Vicki L McGovern; W David Arnold; Arthur H M Burghes; Stephen J Kolb
Journal: J Neuromuscul Dis Date: 2017

2. Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw.

Authors: A W Spiegler; I Hausmanowa-Pertrusewicz; J Borkowska; A Kłopocka
Journal: Hum Genet Date: 1990-07 Impact factor: 4.132

3. De novo deletions in spinal muscular atrophy: implications for genetic counselling.

Authors: V Raclin; P S Veber; L Bürglen; A Munnich; J Melki
Journal: J Med Genet Date: 1997-01 Impact factor: 6.318

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. Natural history of infantile-onset spinal muscular atrophy.

Authors: Stephen J Kolb; Christopher S Coffey; Jon W Yankey; Kristin Krosschell; W David Arnold; Seward B Rutkove; Kathryn J Swoboda; Sandra P Reyna; Ai Sakonju; Basil T Darras; Richard Shell; Nancy Kuntz; Diana Castro; Julie Parsons; Anne M Connolly; Claudia A Chiriboga; Craig McDonald; W Bryan Burnette; Klaus Werner; Mathula Thangarajh; Perry B Shieh; Erika Finanger; Merit E Cudkowicz; Michelle M McGovern; D Elizabeth McNeil; Richard Finkel; Susan T Iannaccone; Edward Kaye; Allison Kingsley; Samantha R Renusch; Vicki L McGovern; Xueqian Wang; Phillip G Zaworski; Thomas W Prior; Arthur H M Burghes; Amy Bartlett; John T Kissel
Journal: Ann Neurol Date: 2017-12-08 Impact factor: 10.422