Spinal muscular atrophy

Author:

Talbot K.1

Affiliation:

1. ; Department of Neurology; Radcliffe Infirmary; Woodstock Road Oxford OX2 6HE UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Frameshift mutation in the survival motor neuron gene in a severe case of SMA Type I;Brahe;Hum Mol Genet,1996

2. Genetic mapping of chronic childhoodonset spinal muscular atrophy to 5q11.2-13.3;Brzustowicz;Nature,1990

3. Burglen L Patel S Dubowitz V Melki J Muntoni F 1996 A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy Proceedings of First Congress of the World Muscle Society

4. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large scale deletions associated with Werdnig-Hoffmann disease;Burglen;Am J Hum Genet,1997

5. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients;Bussaglia;Nature Genetics,1995

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1. Children With Type 1 Spinal Muscular Atrophy Are at Increased Risk for Nephrolithiasis;Pediatric Neurology;2024-01

2. SPİNAL MÜSKÜLER ATROFİ’Lİ ÇOCUK HASTANIN HENDERSON HEMŞİRELİK MODELİNE GÖRE DEĞERLENDİRİLMESİ;Adnan Menderes Üniversitesi Sağlık Bilimleri Fakültesi Dergisi;2021-12-24

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4. Drug treatment for spinal muscular atrophy types II and III;Cochrane Database of Systematic Reviews;2020-01-06

5. Drug treatment for spinal muscular atrophy type I;Cochrane Database of Systematic Reviews;2019-12-11

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