Detalhe da pesquisa
1.
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
BMC Pediatr
; 21(1): 293, 2021 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193099
2.
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
Hum Mutat
; 41(9): 1600-1614, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516863
3.
Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy Types 1 and 2.
Eur Neurol
; 77(1-2): 32-39, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27855411
4.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23623388
5.
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.
PLoS Genet
; 9(6): e1003430, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23754947
6.
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
BMC Neurol
; 15: 182, 2015 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26444858
7.
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Brain
; 137(Pt 12): 3160-70, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25260562
8.
Novel recessive myotilin mutation causes severe myofibrillar myopathy.
Neurogenetics
; 15(3): 151-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24928145
9.
Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.
Neuropediatrics
; 45(5): 333-5, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25046452
10.
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
Eur J Pediatr
; 173(10): 1373-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24770546
11.
Mitochondrial abnormalities in myofibrillar myopathies.
Clin Neuropathol
; 33(2): 134-42, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24361111
12.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Nat Genet
; 37(3): 275-81, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15731757
13.
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
BMC Med Genet
; 14: 92, 2013 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24041033
14.
Novel FHL1 mutation in a family with reducing body myopathy.
Muscle Nerve
; 47(1): 127-34, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169582
15.
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
Muscle Nerve
; 45(5): 740-2, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499103
16.
The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.
Neuropediatrics
; 48(4): 242-246, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28482373
17.
Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.
Acta Myol
; 31(3): 179-83, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23620649
18.
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Mol Genet Genomic Med
; 10(10): e2028, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35912688
19.
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Am J Hum Genet
; 83(6): 781-6, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19061984
20.
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Neurol Genet
; 7(3): e590, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34235269