Detalhe da pesquisa
1.
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.
J Med Genet
; 47(12): 795-6, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20930056
2.
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
Neuromuscul Disord
; 19(1): 26-8, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19084400
3.
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Ann Neurol
; 64(2): 177-86, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18551513
4.
Genetics of laminopathies.
Novartis Found Symp
; 264: 81-90; discussion 90-97, 227-30, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-15773749
5.
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.
J Neuromuscul Dis
; 2(2): 175-180, 2015 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27858728
6.
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Arch Neurol
; 61(5): 690-4, 2004 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15148145
7.
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Neuromuscul Disord
; 12(10): 958-63, 2002 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-12467752
8.
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene.
Front Aging Neurosci
; 6: 215, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25191266
9.
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
Neuromuscul Disord
; 20(3): 178-87, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20133133