Detalhe da pesquisa
1.
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.
Int J Mol Sci
; 23(17)2022 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077311
2.
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
3.
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
4.
[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
5.
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
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.
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
8.
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
Am J Med Genet A
; 164A(10): 2541-50, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111638
9.
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
Muscle Nerve
; 50(6): 914-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668782
10.
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
11.
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
12.
Analysis of the Innovative Channel Strut Concept Manufactured by Roll-Forming.
Materials (Basel)
; 15(3)2022 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35161052
13.
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
14.
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
15.
[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
16.
[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
17.
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
18.
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
JCI Insight
; 6(14)2021 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291734
19.
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
20.
Application of the Numerical Model to Design the Geometry of a Unit Tool in the Innovative RTH Hydroforming Technology.
Materials (Basel)
; 13(23)2020 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260617