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1.
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia.
Hum Brain Mapp
; 44(7): 2684-2700, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36895129
2.
On the association between apathy and deficits of social cognition and executive functions in Huntington's disease.
J Int Neuropsychol Soc
; 29(4): 369-376, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36189712
3.
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Acta Neurol Scand
; 145(5): 529-540, 2022 May.
Article
in English
| MEDLINE | ID: mdl-34997757
4.
Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease.
Ann Neurol
; 87(2): 246-255, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31725947
5.
Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers.
Cogn Behav Neurol
; 34(4): 295-302, 2021 12 02.
Article
in English
| MEDLINE | ID: mdl-34851867
6.
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
Mov Disord
; 35(12): 2343-2347, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32949189
7.
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Hum Mol Genet
; 26(5): 873-887, 2017 03 01.
Article
in English
| MEDLINE | ID: mdl-28093491
8.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Mov Disord
; 33(7): 1119-1129, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29603387
9.
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Hum Mol Genet
; 23(23): 6163-76, 2014 Dec 01.
Article
in English
| MEDLINE | ID: mdl-24986922
10.
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Acta Neuropathol
; 130(4): 511-23, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26358247
11.
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
Nat Genet
; 37(8): 806-8, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-16041373
12.
Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study.
J Neurol Neurosurg Psychiatry
; 84(2): 170-6, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23142962
13.
Cerebellar ataxia-neuropathy-vestibular areflexia-syndrome.
Ugeskr Laeger
; 185(19)2023 05 08.
Article
in Danish
| MEDLINE | ID: mdl-37170740
14.
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.
Orphanet J Rare Dis
; 18(1): 72, 2023 04 06.
Article
in English
| MEDLINE | ID: mdl-37024986
15.
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer's disease.
Genome Med
; 15(1): 50, 2023 07 20.
Article
in English
| MEDLINE | ID: mdl-37468900
16.
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
Hum Mol Genet
; 19(11): 2228-38, 2010 Jun 01.
Article
in English
| MEDLINE | ID: mdl-20223751
17.
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
J Gene Med
; 14(8): 521-9, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22786763
18.
Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.
BMC Neurol
; 12: 73, 2012 Aug 13.
Article
in English
| MEDLINE | ID: mdl-22889412
19.
An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers.
J Huntingtons Dis
; 11(4): 373-381, 2022.
Article
in English
| MEDLINE | ID: mdl-35964199
20.
Impairments of social cognition significantly predict the progression of functional decline in Huntington's disease: A 6-year follow-up study.
Appl Neuropsychol Adult
; : 1-10, 2022 May 13.
Article
in English
| MEDLINE | ID: mdl-35549503