Search details
1.
Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3.
FASEB J
; 38(2): e23429, 2024 01 31.
Article
in English
| MEDLINE | ID: mdl-38258931
2.
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Brain
; 2024 May 04.
Article
in English
| MEDLINE | ID: mdl-38703371
3.
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Brain
; 146(3): 880-897, 2023 03 01.
Article
in English
| MEDLINE | ID: mdl-36380488
4.
Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
Hum Mol Genet
; 31(1): 133-145, 2021 12 17.
Article
in English
| MEDLINE | ID: mdl-34387338
5.
Identity-by-descent analysis of CMTX3 links three families through a common founder.
J Hum Genet
; 68(1): 47-49, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36100665
6.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 93(5): 530-538, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35140138
7.
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
J Peripher Nerv Syst
; 27(2): 120-126, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35224818
8.
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
Neurogenetics
; 22(3): 149-160, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34089394
9.
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.
J Neurol Neurosurg Psychiatry
; 91(2): 162-171, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31690696
10.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Neurogenetics
; 20(3): 117-127, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31011849
11.
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Hum Mol Genet
; 26(14): 2616-2626, 2017 07 15.
Article
in English
| MEDLINE | ID: mdl-28444311
12.
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
PLoS Genet
; 12(7): e1006177, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27438001
13.
Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy.
J Neurosci
; 37(32): 7782-7794, 2017 08 09.
Article
in English
| MEDLINE | ID: mdl-28687604
14.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain
; 140(5): 1252-1266, 2017 May 01.
Article
in English
| MEDLINE | ID: mdl-28369220
15.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Ann Neurol
; 79(3): 419-27, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26659848
16.
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.
Neurodegener Dis
; 17(6): 304-312, 2017.
Article
in English
| MEDLINE | ID: mdl-29131108
17.
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.
Neurobiol Dis
; 94: 237-44, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-27388934
18.
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Hum Mol Genet
; 28(4): 698, 2019 02 15.
Article
in English
| MEDLINE | ID: mdl-30371781
19.
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
Hum Genet
; 135(11): 1269-1278, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27487800
20.
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Am J Hum Genet
; 93(5): 900-5, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24119685