Detalhe da pesquisa
1.
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
Int J Mol Sci
; 22(2)2021 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33477664
2.
A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases.
Int J Mol Sci
; 21(12)2020 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32560077
3.
[Therapeutic perspective in hereditary polyneuropathies]. / Perspektywy terapii w polineuropatiach genetycznie uwarunkowanych.
Postepy Biochem
; 64(4): 288-299, 2018 Dec 29.
Artigo
em Polonês
| MEDLINE | ID: mdl-30656913
4.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
5.
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.
Neurogenetics
; 16(1): 27-32, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25342198
6.
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
Hum Mol Genet
; 21(1): 150-62, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21965300
7.
A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.
Acta Myol
; 32(3): 166-9, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24803844
8.
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain
; 134(Pt 9): 2664-76, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840889
9.
The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
Genes (Basel)
; 13(9)2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140714
10.
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.
Neurogenetics
; 12(2): 145-53, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21365284
11.
[Molecular pathogenesis of hereditary motor and sensory neuropathy]. / Patogeneza molekularna choroby Charcot-Marie-Tooth 2.
Postepy Biochem
; 57(3): 283-93, 2011.
Artigo
em Polonês
| MEDLINE | ID: mdl-22235654
12.
[Mitofusin 2 as a crucial peripheral nervous system protein and a common regulator of cell metabolism]. / Mitofuzyna 2--wazne bialko obwodowego ukladu nerwowego i powszechnie wystepujacy regulator metabolizmu.
Postepy Biochem
; 57(2): 215-21, 2011.
Artigo
em Polonês
| MEDLINE | ID: mdl-21913423
13.
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future.
Neuromuscul Disord
; 31(12): 1266-1278, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34785121
14.
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Neurogenetics
; 11(3): 357-66, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232219
15.
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
Genes (Basel)
; 11(3)2020 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32183277
16.
A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).
Neuromuscul Disord
; 18(4): 339-41, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18337101
17.
A role for the GDAP1 gene in the molecular pathogenesis of CharcotMarieTooth disease.
Acta Neurobiol Exp (Wars)
; 78(1): 1-13, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29694336
18.
CharcotMarieTooth type 1A drug therapies: role of adenylyl cyclase activity and Gprotein coupled receptors in disease pathomechanism.
Acta Neurobiol Exp (Wars)
; 78(3): 198-209, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295677
19.
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.
Sci Rep
; 8(1): 16900, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442897
20.
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain
; 129(Pt 8): 2093-102, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16714318