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1.
APOE2 Exacerbates TDP-43 Related Toxicity in the Absence of Alzheimer Pathology.
Ann Neurol
; 93(4): 830-843, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36546684
2.
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.
Acta Neuropathol
; 147(1): 73, 2024 Apr 19.
Article
in English
| MEDLINE | ID: mdl-38641715
3.
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations.
Brain
; 145(7): 2472-2485, 2022 07 29.
Article
in English
| MEDLINE | ID: mdl-34918030
4.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
Brain
; 144(4): 1082-1088, 2021 05 07.
Article
in English
| MEDLINE | ID: mdl-33889947
5.
Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions.
J Neurol Neurosurg Psychiatry
; 92(5): 502-509, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33452054
6.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res
; 27(11): 1895-1903, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28887402
7.
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Alzheimers Dement
; 16(1): 118-130, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31914217
8.
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.
Hum Mol Genet
; 26(17): 3421-3431, 2017 09 01.
Article
in English
| MEDLINE | ID: mdl-28637276
9.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Acta Neuropathol
; 137(6): 879-899, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30739198
10.
Exploring shared features in neurodegenerative diseases.
Brain
; 146(11): 4405-4407, 2023 11 02.
Article
in English
| MEDLINE | ID: mdl-37791588
11.
Jump from pre-mutation to pathologic expansion in C9orf72.
Am J Hum Genet
; 96(6): 962-70, 2015 Jun 04.
Article
in English
| MEDLINE | ID: mdl-26004200
12.
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.
Acta Neuropathol
; 134(2): 255-269, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28508101
13.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Acta Neuropathol
; 130(1): 77-92, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25943890
14.
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.
Acta Neuropathol
; 130(6): 863-76, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26437865
15.
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.
Acta Neuropathol
; 130(4): 559-73, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26350237
16.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24706941
17.
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
Hum Mol Genet
; 21(17): 3776-84, 2012 Sep 01.
Article
in English
| MEDLINE | ID: mdl-22645277
18.
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
Acta Neuropathol
; 127(3): 397-406, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24385136
19.
ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.
Eur Neurol
; 72(1-2): 64-71, 2014.
Article
in English
| MEDLINE | ID: mdl-24861139
20.
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Nat Neurosci
; 27(4): 643-655, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38424324