Detalhe da pesquisa
1.
Hot-spot KIF5A mutations cause familial ALS.
Brain
; 141(3): 688-697, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342275
2.
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Acta Neuropathol
; 135(1): 131-148, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780615
3.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Hum Mol Genet
; 22(20): 4224-32, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777631
4.
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
J Peripher Nerv Syst
; 20(1): 52-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25676889
5.
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
Clin Neuropathol
; 33(5): 335-43, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24887401
6.
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
J Neuromuscul Dis
; 11(3): 625-645, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578900
7.
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Brain Pathol
; 34(1): e13200, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37581289
8.
Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X.
Brain
; 135(Pt 1): 88-104, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22094537
9.
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Proc Natl Acad Sci U S A
; 106(41): 17528-33, 2009 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19805030
10.
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Neurol Res Pract
; 4(1): 5, 2022 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101151
11.
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines.
Children (Basel)
; 8(8)2021 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34438578
12.
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain
; 132(Pt 10): 2699-711, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19651702
13.
Dense fibroadhesive scarring and poor blood vessel-maturation hamper the integration of implanted collagen scaffolds in an experimental model of spinal cord injury.
Biomed Mater
; 15(1): 015012, 2020 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31796648
14.
Hereditary Neuropathies.
Dtsch Arztebl Int
; 115(6): 91-97, 2018 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478438
15.
Development of a Polymer-Based Biodegradable Neurovascular Stent Prototype: A Preliminary In Vitro and In Vivo Study.
Macromol Biosci
; 18(7): e1700292, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29855168
16.
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
17.
Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.
J Neuromuscul Dis
; 3(2): 183-200, 2016 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854215
18.
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Brain Behav
; 6(4): e00451, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27088055
19.
Spinal cord organotypic slice cultures for the study of regenerating motor axon interactions with 3D scaffolds.
Biomaterials
; 35(14): 4288-96, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24565523
20.
The EORTC QLQ-OH17: a supplementary module to the EORTC QLQ-C30 for assessment of oral health and quality of life in cancer patients.
Eur J Cancer
; 48(14): 2203-11, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22572480