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Literature DB >> 15346918

Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation.

Wael El-Matary¹, Sunanda Kotagiri, Duncan Cameron, Ian Peart.

Abstract

Entities: Disease

Mesh：

Year: 2004 PMID： 15346918 DOI： 10.1007/s00431-004-1437-6

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

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7 in total

1. Spinal muscular atrophy combined with congenital heart disease: a report of two cases.

Authors: W M Mulleners; C M van Ravenswaay; F J Gabreëls; B C Hamel; A van Oort; R C Sengers
Journal: Neuropediatrics Date: 1996-12 Impact factor: 1.947

2. Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.

Authors: S D Pena; M H Shokeir
Journal: J Pediatr Date: 1974-09 Impact factor: 4.406

3. SMN gene deletion in variant of infantile spinal muscular atrophy.

Authors: L Bürglen; R Spiegel; J Ignatius; J M Cobben; P Landrieu; S Lefebvre; A Munnich; J Melki
Journal: Lancet Date: 1995-07-29 Impact factor: 79.321

4. Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

Authors: P Møller; N Moe; O D Saugstad; K Skullerud; M Velken; K Berg; S Nitter-Hauge; A L Børresen
Journal: Clin Genet Date: 1990-08 Impact factor: 4.438

5. Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy.

Authors: J Finsterer; C Stöllberger
Journal: Cardiology Date: 1999 Impact factor: 1.869

6. Clinical and molecular genetic features of congenital spinal muscular atrophy.

Authors: K Devriendt; M Lammens; E Schollen; C Van Hole; R Dom; H Devlieger; J J Cassiman; J P Fryns; G Matthijs
Journal: Ann Neurol Date: 1996-11 Impact factor: 10.422

Review 7. Spinal muscular atrophy: recent advances and future prospects.

Authors: Sophie Nicole; Carmen Cifuentes Diaz; Tony Frugier; Judith Melki
Journal: Muscle Nerve Date: 2002-07 Impact factor: 3.217

7 in total

8 in total

1. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice.

Authors: Christopher R Heier; Rosalba Satta; Cathleen Lutz; Christine J DiDonato
Journal: Hum Mol Genet Date: 2010-08-06 Impact factor: 6.150

Review 2. Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Authors: Monir Shababi; Christian L Lorson; Sabine S Rudnik-Schöneborn
Journal: J Anat Date: 2013-07-22 Impact factor: 2.610

3. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain.

Authors: Michael P Walker; T K Rajendra; Luciano Saieva; Jennifer L Fuentes; Livio Pellizzoni; A Gregory Matera
Journal: Hum Mol Genet Date: 2008-08-08 Impact factor: 6.150

4. Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy.

Authors: Gillian K Maxwell; Eva Szunyogova; Hannah K Shorrock; Thomas H Gillingwater; Simon H Parson
Journal: J Anat Date: 2018-02-22 Impact factor: 2.610

5. Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model.

Authors: Lei Sheng; Bo Wan; Pengchao Feng; Junjie Sun; Frank Rigo; C Frank Bennett; Martin Akerman; Adrian R Krainer; Yimin Hua
Journal: Hum Mol Genet Date: 2018-02-01 Impact factor: 6.150