Detalhe da pesquisa
1.
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Clin Genet
; 104(6): 705-710, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553249
2.
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.
Hum Mol Genet
; 20(23): 4644-54, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890494
3.
A missense mutation in CASK causes FG syndrome in an Italian family.
Am J Hum Genet
; 84(2): 162-77, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19200522
4.
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
Muscle Nerve
; 46(2): 275-82, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22806379
5.
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
J Cell Physiol
; 226(11): 2894-900, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21302287
6.
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
Curr Opin Neurol
; 24(5): 429-36, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21825984
7.
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.
Clin Chem
; 57(11): 1584-96, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21896784
8.
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing.
Anal Biochem
; 406(2): 176-84, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20670611
9.
Perioral skin biopsy to study skeletal muscle protein expression.
Muscle Nerve
; 41(3): 392-8, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20162678
10.
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
J Neurol
; 252(5): 538-47, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15726252
11.
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Eur J Hum Genet
; 19(9): 974-80, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21522182
12.
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
J Mol Diagn
; 12(1): 65-73, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19959795
13.
Calpain-3 mutations in Turkey.
Eur J Pediatr
; 165(5): 293-8, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16411092
14.
On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.
Ann Neurol
; 54(5): 674-8, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14595658
15.
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
Clin Chem
; 49(5): 761-8, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12709367