1 |
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
61
6
56
24
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Skibinski G...Collinge J
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16041373 |
2005 |
2 |
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
56
24
6
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van der Zee J...Van Broeckhoven C
|
17956895 |
2008 |
3 |
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.
56
24
6
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Cannon A...Pickering-Brown SM
|
16431024 |
2006 |
4 |
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
24
56
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Urwin H...Isaacs AM
|
20223751 |
2010 |
5 |
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
6
24
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Cox LE...Shaw PJ
|
20352044 |
2010 |
6 |
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.
24
56
|
Mackenzie IR...Mann DM
|
19924424 |
2010 |
7 |
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
24
6
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Parkinson N...FReJA Consortium
|
16807408 |
2006 |
8 |
Genetic variability in CHMP2B and frontotemporal dementia.
24
56
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Momeni P...Hardy J
|
16954699 |
2006 |
9 |
Chromosome 3 linked frontotemporal dementia (FTD-3).
56
24
|
Gydesen S...Sorensen SA
|
12451202 |
2002 |
10 |
Familial non-specific dementia maps to chromosome 3.
24
56
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Brown J...Collinge J
|
8541850 |
1995 |
11 |
Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease.
24
56
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Gydesen S...Sorensen SA
|
3673655 |
1987 |
12 |
ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration.
24
61
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Lee JA...Gao FB
|
17683935 |
2007 |
13 |
CHMP2B Frontotemporal Dementia
6
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Roos P...Isaacs AM
|
20301378 |
2007 |
14 |
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
61
24
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Rizzu P...van Swieten JC
|
16941655 |
2006 |
15 |
A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers.
56
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Poduslo SE...Schwankhaus J
|
10480352 |
1999 |
16 |
Chromosome 3-linked frontotemporal dementia.
56
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Brown J
|
9791535 |
1998 |
17 |
Familial dementia of adult onset with pathological findings of a 'non-specific' nature.
56
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Kim RC...Chu YB
|
7470845 |
1981 |
18 |
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
24
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Nielsen TT...FReJA Consortium
|
22786763 |
2012 |
19 |
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice.
24
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Ghazi-Noori S...Isaacs AM
|
22366797 |
2012 |
20 |
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
24
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Renton AE...Traynor BJ
|
21944779 |
2011 |
21 |
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
24
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DeJesus-Hernandez M...Rademakers R
|
21944778 |
2011 |
22 |
Frontotemporal dementia caused by CHMP2B mutations.
24
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Isaacs AM...FReJA consortium
|
21222599 |
2011 |
23 |
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.
24
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Ghanim M...French Research Network on FTD and FTD/MND
|
20625756 |
2010 |
24 |
Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene.
24
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Holm IE...Mackenzie IR
|
19844732 |
2009 |
25 |
CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis.
24
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Blair IP...Nicholson GA
|
18270236 |
2008 |
26 |
Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.
24
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Lindquist SG...FReJA Consortium
|
18484988 |
2008 |
27 |
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease.
24
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Filimonenko M...Simonsen A
|
17984323 |
2007 |
28 |
A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3.
24
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Holm IE...Isaacs AM
|
17917582 |
2007 |
29 |
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration.
24
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Cairns NJ...Consortium for Frontotemporal Lobar Degeneration
|
17579875 |
2007 |
30 |
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.
24
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Spina S...Grafman J
|
17202431 |
2007 |
31 |
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
24
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Josephs KA...Dickson DW
|
17278999 |
2007 |
32 |
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.
24
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Behrens MI...Cairns NJ
|
17334266 |
2007 |
33 |
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.
24
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Mesulam M...Graff-Radford NR
|
17210807 |
2007 |
34 |
Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B.
24
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Momeni P...Hardy J
|
17095158 |
2006 |
35 |
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.
24
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Masellis M...Rogaeva E
|
17030534 |
2006 |
36 |
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.
24
|
Mukherjee O...Goate AM
|
16983685 |
2006 |
37 |
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
24
|
Baker M...Hutton M
|
16862116 |
2006 |
38 |
Frontotemporal dementia linked to chromosome 3.
24
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Brown J...FReJA (Frontotemporal Dementia Research in Jutland Association)
|
15178935 |
2004 |
39 |
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
24
|
Bird TD...Schellenberg GD
|
10219785 |
1999 |
40 |
Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants.
24
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Foster NL...Gilman S
|
9189031 |
1997 |
41 |
Defective neuronal and oligodendroglial differentiation by FTD3- and ALS17-associated Ile29-to-Val mutation of CHMP2B.
61
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Yamawaki M...Yamauchi J
|
30766798 |
2019 |
42 |
Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B.
61
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Zhang Y...Freude KK
|
28216144 |
2017 |
43 |
A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia.
61
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Vernay A...Rene F
|
27329763 |
2016 |
44 |
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B.
61
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Zhang Y...Freude KK
|
27558613 |
2016 |
45 |
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B.
61
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Zhang Y...Freude KK
|
27558614 |
2016 |
46 |
Expression of mutant CHMP2B, an ESCRT-III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila.
61
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Cheruiyot A...Ahmad ST
|
24158394 |
2014 |
47 |
Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III.
61
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Lee JA...Gao FB
|
19738424 |
2009 |
48 |
Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia.
61
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Ahmad ST...Gao FB
|
19581577 |
2009 |
49 |
ESCRT, autophagy, and frontotemporal dementia.
61
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Lee JA...Gao FB
|
19123971 |
2008 |
50 |
Roles of ESCRT in autophagy-associated neurodegeneration.
61
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Lee JA...Gao FB
|
18094607 |
2008 |