Detalhe da pesquisa
1.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Mol Genet Metab
; 138(3): 107525, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796138
2.
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Hum Mol Genet
; 28(11): 1782-1800, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649465
3.
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
J Inherit Metab Dis
; 41(5): 877-883, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29110179
4.
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Am J Hum Genet
; 93(5): 906-14, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119684
5.
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Ann Neurol
; 76(6): 891-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25272951
6.
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
Muscle Nerve
; 50(2): 292-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24711008
7.
Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease.
Cell Death Dis
; 15(6): 405, 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38858390
8.
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.
Hum Mol Genet
; 20(22): 4430-9, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21856731
9.
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Ann Clin Transl Neurol
; 7(11): 2186-2198, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33034425
10.
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Neurology
; 91(11): e1077-e1082, 2018 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30111548
11.
Guaiacol as a drug candidate for treating adult polyglucosan body disease.
JCI Insight
; 3(17)2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30185673
12.
Neuromuscular forms of glycogen branching enzyme deficiency.
Acta Myol
; 26(1): 75-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17915577
13.
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
Neuromuscul Disord
; 26(1): 16-20, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26652229
14.
A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.
Child Neurol Open
; 3: 2329048X15627937, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503604
15.
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
JAMA Neurol
; 72(4): 441-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25665141
16.
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.
J Child Neurol
; 28(2): 236-42, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22638077
17.
Animal models of glycogen storage disorders.
Prog Mol Biol Transl Sci
; 100: 369-88, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21377631
18.
Selective activation, expansion, and monitoring of human iNKT cells with a monoclonal antibody specific for the TCR alpha-chain CDR3 loop.
Eur J Immunol
; 38(6): 1756-66, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18493987
19.
Prenatal diagnosis of glycogen storage disease type IV.
Prenat Diagn
; 26(10): 951-5, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16874838