Detalhe da pesquisa
1.
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Neuropediatrics
; 54(5): 351-355, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36603837
2.
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768204
3.
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.
Neuropediatrics
; 52(5): 377-382, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33511595
4.
Impaired muscle spindle function in murine models of muscular dystrophy.
J Physiol
; 598(8): 1591-1609, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32003874
5.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
6.
IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.
Retina
; 39(3): 558-569, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215532
7.
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.
Am J Hum Genet
; 97(6): 855-61, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581903
8.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Am J Hum Genet
; 90(2): 201-16, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265013
9.
A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience.
Muscle Nerve
; 52(3): 437-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26111941
10.
Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart.
Am J Physiol Heart Circ Physiol
; 306(4): H564-H573, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24337461
11.
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
PLoS Genet
; 7(4): e1002042, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21533183
12.
Targeted disruption of Hspa4 gene leads to cardiac hypertrophy and fibrosis.
J Mol Cell Cardiol
; 53(4): 459-68, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22884543
13.
Acute decompensated heart failure associated with a heteroplasmic 3243A > G mitochondrial DNA point mutation.
Eur Heart J
; 37(21): 1707, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26941201
14.
Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome.
Life Sci Alliance
; 5(11)2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790299
15.
The bradycardic agent ivabradine decreases conduction velocity in the AV node and in the ventricles in-vivo.
Eur J Pharmacol
; 893: 173818, 2021 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33345856
16.
Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency.
JIMD Rep
; 46(1): 4-10, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240148
17.
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
Neurology
; 91(18): e1690-e1694, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30291184
18.
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.
Neuromuscul Disord
; 17(2): 148-56, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17236769
19.
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
Eur J Hum Genet
; 25(2): 262-266, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27782104
20.
Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis.
J Neuropathol Exp Neurol
; 65(9): 855-65, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16957579