Detalhe da pesquisa
1.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855352
2.
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Am J Hum Genet
; 100(1): 169-178, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017374
3.
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Ann Neurol
; 86(2): 193-202, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155743
4.
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
Hum Mol Genet
; 26(16): 3081-3093, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505249
5.
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.
J Hum Genet
; 63(2): 249-254, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29167554
6.
A Nationwide Survey on Danon Disease in Japan.
Int J Mol Sci
; 19(11)2018 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30413001
7.
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²âº channels.
Hum Mol Genet
; 24(3): 637-48, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227914
8.
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Muscle Nerve
; 55(4): 465-469, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500519
9.
Respiratory and cardiac function in japanese patients with dysferlinopathy.
Muscle Nerve
; 53(3): 394-401, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088049
10.
Dietary phosphorus overload aggravates the phenotype of the dystrophin-deficient mdx mouse.
Am J Pathol
; 184(11): 3094-104, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174878
11.
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry
; 86(5): 483-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25253871
12.
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
Brain
; 137(Pt 10): 2670-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25062695
13.
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Am J Hum Genet
; 88(6): 845-851, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665002
14.
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
J Neurol Neurosurg Psychiatry
; 85(8): 914-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24027297
15.
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.
Dev Biol
; 361(1): 79-89, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22020047
16.
Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.
J Biol Chem
; 287(4): 2689-705, 2012 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22157763
17.
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
Hum Mol Genet
; 20(19): 3841-51, 2011 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750112
18.
In vivo characterization of mutant myotilins.
Am J Pathol
; 180(4): 1570-80, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22349301
19.
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 84(9): 982-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572247
20.
[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].
No To Hattatsu
; 45(6): 452-6, 2013 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-24313005