Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

被引：21

作者：

Gomez-Tortosa, Estrella ^{[1
]}

Van der Zee, Julie ^{[2
,3
]}

Ruggiero, Maria ^{[1
]}

Gijselinck, Ilse ^{[2
,3
]}

Esteban-Perez, Jesus ^{[4
,5
]}

Garcia-Redondo, Alberto ^{[4
,5
]}

Borrego-Hernandez, Daniel ^{[4
,5
]}

Navarro, Eloisa ^{[6
]}

Jose Sainz, M. ^{[1
]}

Perez-Perez, Julian ^{[7
]}

Cruts, Marc ^{[2
,3
]}

Van Broeckhoven, Christine ^{[2
,3
]}

Guerrero-Lopez, Rosa ^{[1
,8
,9
]}

机构：

[1] Fdn Jimenez Diaz, Dept Neurol, Avda Reyes Catolicos 2, Madrid 28040, Spain

[2] VIB, Neurodegenerat Brain Dis Grp, Ctr Mol Neurol, Antwerp, Belgium

[3] Univ Antwerp, Inst Born Bunge, Lab Neurogenet, Antwerp, Belgium

[4] 12 Octubre Hosp Hlth Res, ALS Unit, Inst imas12, Madrid, Spain

[5] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain

[6] Hosp Infanta Leonor, Dept Neurol, Madrid, Spain

[7] Secugen SL, Dept Genet, Madrid, Spain

[8] IIS FJD, Madrid, Spain

[9] Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2017年 / 88卷 / 11期

关键词：

COHORT;

D O I：

10.1136/jnnp-2016-315250

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：996 / +

页数：2

共 50 条

[41] Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
Mitchell, John
Paul, Praveen
Chen, Han-Jou
Morris, Alex
Payling, Miles
Falchi, Mario
Habgood, James
Panoutsou, Stefania
Winkler, Sabine
Tisato, Veronica
Hajitou, Amin
Smith, Bradley
Vance, Caroline
Shaw, Christopher
Mazarakis, Nicholas D.
de Belleroche, Jacqueline
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (16) : 7556 - 7561
[42] An autopsy case of familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase
Ono, S.
Ishikawa, H.
Yasui, K.
Nomura, M.
Mikami, H.
Watanabe, T.
Yamano, T.
Suzuki, M.
Oyanagi, K.
XVII INTERNATIONAL CONGRESS OF NEUROPATHOLOGY (ICN), 2010, : 71 - 75
[43] SOD1 mutation and clinical features of familial amyotrophic lateral sclerosis
Abe, K
Warita, H
Murakami, T
Hayashi, T
Sato, K
Manabe, Y
MOLECULAR MECHANISM AND THERAPEUTICS OF AMYOTROPHIC LATERAL SCLEROSIS, 2001, 1221 : 117 - 122
[44] A novel SOD1 gene mutation in familial amyotrophic lateral sclerosis
Murakami, T
Nagano, I
Shoji, M
Abe, K
FREE RADICAL BIOLOGY AND MEDICINE, 2002, 33 : S58 - S58
[45] A novel SOD1 mutation in familial amyotrophic lateral sclerosis.
Hung, WY
Yang, Y
Kaplan, JP
Deng, G
Deng, HX
Siddique, N
Eisen, A
Siddique, T
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A410 - A410
[46] Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients
Daoud, Hussein
Dobrzeniecka, Sylvia
Camu, William
Meininger, Vincent
Dupre, Nicolas
Dion, Patrick A.
Rouleau, Guy A.
NEUROBIOLOGY OF AGING, 2013, 34 (04) : 1311.e1 - 1311.e2
[47] ANALYSIS OF THE FUNCTIONAL-EFFECTS OF A MUTATION IN SOD1 ASSOCIATED WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS
TSUDA, T
MUNTHASSER, S
FRASER, PE
PERCY, ME
RAINERO, I
VAULA, G
PINESSI, L
BERGAMINI, L
VIGNOCCHI, G
MCLACHLAN, DRC
TATTON, WG
SAINTGEORGEHYSLOP, P
NEURON, 1994, 13 (03) : 727 - 736
[48] An autopsy case of familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase
Ono, S.
Ishikawa, H.
Yasui, K.
Nomura, M.
Mikami, H.
Watanabe, T.
Yamano, T.
Suzuki, M.
Oyanagi, K.
BRAIN PATHOLOGY, 2010, 20 : 30 - 30
[49] Familial frontotemporal dementia associated with a novel presenilin-1 mutation
Tang-Wai, D
Lewis, P
Boeve, B
Hutton, M
Golde, T
Baker, M
Hardy, J
Michels, V
Ivnik, R
Jack, C
Petersen, R
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2002, 14 (01) : 13 - 21
[50] Familial frontotemporal dementia associated with a novel presenilin-1 mutation
Tang-Wai, DF
Boeve, BF
Lewis, PA
Hutton, ML
Golde, T
Baker, M
Hardy, J
Michels, VV
NEUROLOGY, 2000, 54 (07) : A150 - A151

← 1 2 3 4 5 →