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.
Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?
J Peripher Nerv Syst
; 21(1): 22-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663344
6.
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
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.
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
13.
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
Genes (Basel)
; 11(3)2020 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32183277
14.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
; 95(24): e3163-e3179, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144514
15.
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
16.
[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]. / Mutacje w genie mitofuzyny 2 najczestsza przyczyna choroby Charcota-Mariego-Tootha typu 2.
Neurol Neurochir Pol
; 41(4): 350-4, 2007.
Artigo
em Polonês
| MEDLINE | ID: mdl-17874344
17.
The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.
PLoS One
; 12(1): e0169999, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28076385
18.
A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
J Neurol Sci
; 241(1-2): 7-11, 2006 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16343542
19.
De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
Acta Biochim Pol
; 51(4): 1047-50, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15625576
20.
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Eur J Paediatr Neurol
; 8(4): 221-4, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15261887