Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

被引：15

作者：

Dobson-Stone, Carol ^{[1
,2
]}

Shaw, Alex D. ^{[1
,3
]}

Hallupp, Marianne ^{[1
]}

Bartley, Lauren ^{[1
]}

McCann, Heather ^{[1
]}

Brooks, William S. ^{[1
,4
]}

Loy, Clement T. ^{[5
]}

Schofield, Peter R. ^{[1
,2
]}

Mather, Karen A. ^{[6
]}

Kochan, Nicole A. ^{[6
]}

Sachdev, Perminder S. ^{[6
,7
]}

Halliday, Glenda M. ^{[1
,2
]}

Piguet, Olivier ^{[1
,2
]}

Hodges, John R. ^{[1
,2
]}

Kwok, John B. J. ^{[1
,2
]}

机构：

[1] Neurosci Res Australia, Sydney, NSW, Australia

[2] Univ New S Wales, Sch Med Sci, Sydney, NSW, Australia

[3] Schizophrenia Res Inst, Sydney, NSW, Australia

[4] Univ New S Wales, Prince Wales Clin Sch, Sydney, NSW, Australia

[5] Univ Sydney, Sch Publ Hlth, Sydney, NSW 2006, Australia

[6] Univ New S Wales, Sch Psychiat, Ctr Hlth Brain Ageing, Sydney, NSW, Australia

[7] Prince Wales Hosp, Inst Neuropsychiat, Sydney, NSW, Australia

来源：

BRAIN | 2015年 / 138卷

关键词：

COMMON-CAUSE; MUTATIONS; GENE;

D O I：

10.1093/brain/awv115

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：E385 / U17

页数：4

共 50 条

[1] Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Bannwarth, Sylvie
Ait-El-Mkadem, Samira
Chaussenot, Annabelle
Genin, Emmanuelle C.
Lacas-Gervais, Sandra
Fragaki, Konstantina
Berg-Alonso, Laetitia
Kageyama, Yusuke
Serre, Valerie
Moore, David
Verschueren, Annie
Rouzier, Cecile
Le Ber, Isabelle
Auge, Gaelle
Cochaud, Charlotte
Lespinasse, Francoise
N'Guyen, Karine
de Septenville, Anne
Brice, Alexis
Yu-Wai-Man, Patrick
Sesaki, Hiromi
Pouget, Jean
Paquis-Flucklinger, Veronique
BRAIN, 2015, 138 : E386 - U20
[2] CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia
Abdelkarim, Samir
Morgan, Sarah
Plagnol, Vincent
Lu, Ching-Hua
Adamson, Gary
Howard, Robin
Malaspina, Andrea
Orrell, Richard
Sharma, Nikhil
Sidle, Katie
Clarke, Jan
Fox, Nick C.
Rossor, Martin N.
Warren, Jason D.
Clark, Camilla N.
Rohrer, Jonathan D.
Fisher, Elizabeth M. C.
Mead, Simon
Pittman, Alan
Fratta, Pietro
BRAIN, 2016, 139 : E9 - U13
[3] Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis
Baiyuan Yang
Chenghui Yang
Junwei Ren
Chengqing Zhong
Keting Liu
Liusha Zhao
Li Li
Han Wang
Mingling Zhu
Zhenfang Lin
Neurological Sciences, 2021, 42 : 625 - 631
[4] A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Bannwarth, Sylvie
Ait-El-Mkadem, Samira
Chaussenot, Annabelle
Genin, Emmanuelle C.
Lacas-Gervais, Sandra
Fragaki, Konstantina
Berg-Alonso, Laetitia
Kageyama, Yusuke
Serre, Valerie
Moore, David G.
Verschueren, Annie
Rouzier, Cecile
Le Ber, Isabelle
Auge, Gaelle
Cochaud, Charlotte
Lespinasse, Francoise
N'Guyen, Karine
de Septenville, Anne
Brice, Alexis
Yu-Wai-Man, Patrick
Sesaki, Hiromi
Pouget, Jean
Paquis-Flucklinger, Veronique
BRAIN, 2014, 137 : 2329 - 2345
[5] Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
Dols-Icardo, Oriol
Nebot, Irene
Gorostidi, Ana
Ortega-Cubero, Sara
Hernandez, Isabel
Rojas-Garcia, Ricard
Garcia-Redondo, Alberto
Povedano, Monica
Llado, Albert
Alvarez, Victoria
Sanchez-Juan, Pascual
Pardo, Julio
Jerico, Ivonne
Vazquez-Costa, Juan
Sevilla, Teresa
Cardona, Fernando
Indakoechea, Begona
Moreno, Fermin
Fernandez-Torron, Roberto
Munoz-Llahuna, Laia
Moreno-Grau, Sonia
Rosende-Roca, Maitee
Vela, Alvaro
Luis Munoz-Blanco, Jose
Combarros, Onofre
Coto, Eliecer
Alcolea, Daniel
Fortea, Juan
Lleo, Alberto
Sanchez-Valle, Raquel
Esteban-Perez, Jesus
Ruiz, Agustin
Pastor, Pau
Lopez De Munain, Adolfo
Perez-Tur, Jordi
Clarimon, Jordi
BRAIN, 2015, 138 : E400 - U24
[6] Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
Chaussenot, Annabelle
Le Ber, Isabelle
Ait-El-Mkadem, Samira
Camuzat, Agnes
de Septenville, Anne
Bannwarth, Sylvie
Genin, Emmanuelle C.
Serre, Valerie
Auge, Gaelle
Brice, Alexis
Pouget, Jean
Paquis-Flucklinger, Veronique
NEUROBIOLOGY OF AGING, 2014, 35 (12) : 2884.e1 - 2884.e4
[7] Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia
Imai, Yuzuru
Meng, Hongrui
Shiba-Fukushima, Kahori
Hattori, Nobutaka
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2019, 20 (04)
[8] Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis
Keith, Julia L.
Swinkin, Emily
Gao, Andrew
Alminawi, Samira
Zhang, Ming
McGoldrick, Philip
McKeever, Paul
Robertson, Janice
Rogaeva, Ekaterina
Zinman, Lorne
NEUROLOGY-GENETICS, 2020, 6 (01)
[9] CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Veldink, Jan H.
ANNALS OF NEUROLOGY, 2018, 84 (01) : 110 - 116
[10] Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice
McCann, Emily P.
Fifita, Jennifer A.
Grima, Natalie
Galper, Jasmin
Mehta, Prachi
Freckleton, Sarah E.
Zhang, Katharine Y.
Henden, Lyndal
Hogan, Alison L.
Chan Moi Fat, Sandrine
Wu, Sharlynn S. L.
Jagaraj, Cyril J.
Berning, Britt A.
Williams, Kelly Louise
Twine, Natalie A.
Bauer, Denis
Piguet, Olivier
Hodges, John
Kwok, John B. J.
Halliday, Glenda M.
Kiernan, Matthew C.
Atkin, Julie
Rowe, Dominic B.
Nicholson, Garth A.
Walker, Adam K.
Blair, Ian P.
Yang, Shu
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2020, 91 (02): : 162 - 171

← 1 2 3 4 5 →