Detalhe da pesquisa
1.
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
BMC Med Genet
; 16: 36, 2015 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26068213
2.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Am J Hum Genet
; 82(3): 661-72, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18319074
3.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770
4.
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
Neuromuscul Disord
; 19(1): 26-8, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19084400
5.
Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
Mov Disord
; 26(9): 1777-9, 2011 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21442655
6.
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Brain Dev
; 28(4): 232-42, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16368217
7.
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Neurogenetics
; 5(1): 27-34, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14652796