| 1 |
C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
25
|
Braems E...Van Den Bosch L
|
32876811 |
2020 |
| 2 |
Amyotrophic lateral sclerosis: a clinical review.
25
|
Masrori P...Van Damme P
|
32526057 |
2020 |
| 3 |
Development of disease-modifying drugs for frontotemporal dementia spectrum disorders.
25
|
Panza F...Imbimbo BP
|
32203398 |
2020 |
| 4 |
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
25
|
Moore KM...FTD Prevention Initiative
|
31810826 |
2020 |
| 5 |
Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial.
25
|
Mora JS...AB10015 STUDY GROUP
|
31280619 |
2020 |
| 6 |
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers.
25
|
Jackson JL...van Blitterswijk M
|
32000838 |
2020 |
| 7 |
The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database.
25
|
Marogianni C...Xiromerisiou G
|
31126629 |
2019 |
| 8 |
C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.
25
|
Cali CP...Lee EB
|
31327044 |
2019 |
| 9 |
Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.
25
|
Cammack AJ...Miller TM
|
31578300 |
2019 |
| 10 |
An update on genetic frontotemporal dementia.
25
|
Greaves CV...Rohrer JD
|
31119452 |
2019 |
| 11 |
C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis.
25
|
Nel M...Heckmann JM
|
31009932 |
2019 |
| 12 |
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
25
|
Fournier C...Le Ber I
|
30337192 |
2019 |
| 13 |
Amyotrophic Lateral Sclerosis: An Update for 2018.
25
|
Oskarsson B...Staff NP
|
30401437 |
2018 |
| 14 |
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.
25
|
Bourinaris T...Houlden H
|
30637277 |
2018 |
| 15 |
Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.
25
|
Vicente-Pascual M...Gelpi E
|
30349865 |
2018 |
| 16 |
Genotype-phenotype links in frontotemporal lobar degeneration.
25
|
Van Mossevelde S...Van Broeckhoven C
|
29777184 |
2018 |
| 17 |
The Genetics of C9orf72 Expansions.
25
|
Gijselinck I...Van Broeckhoven C
|
28130313 |
2018 |
| 18 |
Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study.
25
|
Cash DM...Genetic FTD Initiative, GENFI
|
29172163 |
2018 |
| 19 |
Added Diagnostic Value of Cerebrospinal Fluid Biomarkers for Differential Dementia Diagnosis in an Autopsy-Confirmed Cohort.
25
|
Niemantsverdriet E...Engelborghs S
|
29614653 |
2018 |
| 20 |
Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.
25
|
Barbier M...Le Ber I
|
29264395 |
2017 |
| 21 |
Rethinking Unconventional Translation in Neurodegeneration.
25
|
Gao FB...Cleveland DW
|
29149615 |
2017 |
| 22 |
Diagnosing, monitoring and managing behavioural variant frontotemporal dementia.
25
|
Piguet O...Hodges J
|
28954617 |
2017 |
| 23 |
Relationship between C9orf72 repeat size and clinical phenotype.
25
|
Van Mossevelde S...Van Broeckhoven C
|
28319737 |
2017 |
| 24 |
Age-related penetrance of the C9orf72 repeat expansion.
25
|
Murphy NA...Traynor BJ
|
28522837 |
2017 |
| 25 |
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.
25
|
Van Mossevelde S...Belgian Neurology (BELNEU) Consortium
|
28192553 |
2017 |
| 26 |
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.
25
|
Gijselinck I...Van Broeckhoven C
|
26481318 |
2016 |
| 27 |
The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review.
25
|
Hogan DB...Maxwell CJ
|
27307130 |
2016 |
| 28 |
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.
25
|
Wilke C...Synofzik M
|
26810719 |
2016 |
| 29 |
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.
25
|
Nordin A...Andersen PM
|
25712133 |
2015 |
| 30 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
25
|
Richards S...ACMG Laboratory Quality Assurance Committee
|
25741868 |
2015 |
| 31 |
Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
25
|
Schottlaender LV...Houlden H
|
25308964 |
2015 |
| 32 |
C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.
25
|
Benussi L...Ghidoni R
|
25737153 |
2015 |
| 33 |
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
25
|
Theuns J...GEO-PD Consortium
|
25326098 |
2014 |
| 34 |
Parkinsonian syndrome in familial frontotemporal dementia.
25
|
Siuda J...Wszolek ZK
|
24998994 |
2014 |
| 35 |
Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.
25
|
Bieniek KF...Dickson DW
|
24756204 |
2014 |
| 36 |
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
25
|
Akimoto C...Kubisch C
|
24706941 |
2014 |
| 37 |
Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile.
25
|
Devenney E...Hodges JR
|
24445580 |
2014 |
| 38 |
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
25
|
Hensman Moss DJ...Tabrizi SJ
|
24363131 |
2014 |
| 39 |
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
25
|
Mori K...Edbauer D
|
24132570 |
2013 |
| 40 |
C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.
25
|
Cooper-Knock J...Shaw PJ
|
24107864 |
2013 |
| 41 |
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.
25
|
van Blitterswijk M...Rademakers R
|
24011653 |
2013 |
| 42 |
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
25
|
Fratta P...Mead S
|
23818065 |
2013 |
| 43 |
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
25
|
Cruts M...Van Broeckhoven C
|
23746459 |
2013 |
| 44 |
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.
25
|
Zou ZY...Cui LY
|
23261768 |
2013 |
| 45 |
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.
25
|
Cacace R...Sleegers K
|
23352322 |
2013 |
| 46 |
C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
25
|
Harms M...NIA-LOAD/NCRAD Family Study Consortium
|
23588422 |
2013 |
| 47 |
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.
25
|
Kohli MA...Zuchner S
|
23107433 |
2013 |
| 48 |
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.
25
|
Konno T...Onodera O
|
23012445 |
2013 |
| 49 |
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations.
25
|
Mori K...Haass C
|
23381195 |
2013 |
| 50 |
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
25
|
Beck J...Mead S
|
23434116 |
2013 |
