-
1
-
-
84945465149
-
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooh disease
-
Auranen, M., Ylikallio, E., Shcherbii, M., Paetau, A., Kiuru-Enari, S., Toppila, J.P., Tyynismaa, H. 2015. CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooh disease. Neurology Genetics. doi:10.1212/NXG.0000000000000003.
-
(2015)
Neurology Genetics
-
-
Auranen, M.1
Ylikallio, E.2
Shcherbii, M.3
Paetau, A.4
Kiuru-Enari, S.5
Toppila, J.P.6
Tyynismaa, H.7
-
2
-
-
84905041572
-
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
-
Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E.C., Lacas-Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D.G., Verschueren, A., Rouzier, C., Le Ber, I., Auge, G., Cochaud, C., Lespinasse, F., N'Guyen, K., de Septenville, A., Brice, A., Yu-Wai-Man, P., Sesaki, H., Pouget, J., Paquis-Flucklinger, V. 2014. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 137(Pt 8), 2329-45. doi:10.1093/brain/awu138.
-
(2014)
Brain
, vol.137
, pp. 2329-2345
-
-
Bannwarth, S.1
Ait-El-Mkadem, S.2
Chaussenot, A.3
Genin, E.C.4
Lacas-Gervais, S.5
Fragaki, K.6
Berg-Alonso, L.7
Kageyama, Y.8
Serre, V.9
Moore, D.G.10
Verschueren, A.11
Rouzier, C.12
Le Ber, I.13
Auge, G.14
Cochaud, C.15
Lespinasse, F.16
N'Guyen, K.17
de Septenville, A.18
Brice, A.19
Yu-Wai-Man, P.20
Sesaki, H.21
Pouget, J.22
Paquis-Flucklinger, V.23
more..
-
3
-
-
85027958118
-
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
-
e1-4
-
Chaussenot, A., Le Ber, I., Ait-El-Mkadem, S., Camuzat, A., de Septenville, A., Bannwarth, S., Genin, E.C., Serre, V., Auge, G., French research network on, F.T.D., Ftd, A.L.S., Brice, A., Pouget, J., Paquis-Flucklinger, V. 2014. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. Neurobiology of aging 35(12), 2884 e1-4. doi:10.1016/j.neurobiolaging.2014.07.022.
-
(2014)
Neurobiology of aging
, vol.35
, Issue.12
, pp. 2884
-
-
Chaussenot, A.1
Le Ber, I.2
Ait-El-Mkadem, S.3
Camuzat, A.4
de Septenville, A.5
Bannwarth, S.6
Genin, E.C.7
Serre, V.8
Auge, G.9
Brice, A.10
Pouget, J.11
Paquis-Flucklinger, V.12
-
4
-
-
84952945099
-
Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
-
Dobson-Stone, C., Shaw, A.D., Hallupp, M., Bartley, L., McCann, H., Brooks, W.S., Loy, C.T., Schofield, P.R., Mather, K.A., Kochan, N.A., Sachdev, P.S., Halliday, G.M., Piguet, O., Hodges, J.R., Kwok, J.B. 2015. Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? Brain: a journal of neurology. doi:10.1093/brain/awv115.
-
(2015)
Brain: a journal of neurology
-
-
Dobson-Stone, C.1
Shaw, A.D.2
Hallupp, M.3
Bartley, L.4
McCann, H.5
Brooks, W.S.6
Loy, C.T.7
Schofield, P.R.8
Mather, K.A.9
Kochan, N.A.10
Sachdev, P.S.11
Halliday, G.M.12
Piguet, O.13
Hodges, J.R.14
Kwok, J.B.15
-
5
-
-
84920873336
-
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
-
Johnson, J.O., Glynn, S.M., Gibbs, J.R., Nalls, M.A., Sabatelli, M., Restagno, G., Drory, V.E., Chio, A., Rogaeva, E., Traynor, B.J. 2014. Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain: a journal of neurology 137(Pt 12), e311. doi:10.1093/brain/awu265.
-
(2014)
Brain: a journal of neurology
, vol.137
-
-
Johnson, J.O.1
Glynn, S.M.2
Gibbs, J.R.3
Nalls, M.A.4
Sabatelli, M.5
Restagno, G.6
Drory, V.E.7
Chio, A.8
Rogaeva, E.9
Traynor, B.J.10
-
6
-
-
84878860968
-
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant
-
King, A., Al-Sarraj, S., Troakes, C., Smith, B.N., Maekawa, S., Iovino, M., Spillantini, M.G., Shaw, C.E. 2013. Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant. Acta neuropathologica 125(2), 303-10. doi:10.1007/s00401-012-1050-0.
-
(2013)
Acta neuropathologica
, vol.125
, Issue.2
, pp. 303-310
-
-
King, A.1
Al-Sarraj, S.2
Troakes, C.3
Smith, B.N.4
Maekawa, S.5
Iovino, M.6
Spillantini, M.G.7
Shaw, C.E.8
-
7
-
-
84926411805
-
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
-
Kurzwelly, D., Kruger, S., Biskup, S., Heneka, M.T. 2015. A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. Brain: a journal of neurology. doi:10.1093/brain/awv014.
-
(2015)
Brain: a journal of neurology
-
-
Kurzwelly, D.1
Kruger, S.2
Biskup, S.3
Heneka, M.T.4
-
8
-
-
84920868429
-
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10
-
Penttila, S., Jokela, M., Bouquin, H., Saukkonen, A.M., Toivanen, J., Udd, B. 2015. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Annals of neurology 77(1), 163-72. doi:10.1002/ana.24319.
-
(2015)
Annals of neurology
, vol.77
, Issue.1
, pp. 163-172
-
-
Penttila, S.1
Jokela, M.2
Bouquin, H.3
Saukkonen, A.M.4
Toivanen, J.5
Udd, B.6
-
9
-
-
84938857563
-
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
-
Ronchi, D., Riboldi, G., Del Bo, R., Ticozzi, N., Scarlato, M., Galimberti, D., Corti, S., Silani, V., Bresolin, N., Comi, G.P. 2015. CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. Brain: a journal of neurology. doi:10.1093/brain/awu384.
-
(2015)
Brain: a journal of neurology
-
-
Ronchi, D.1
Riboldi, G.2
Del Bo, R.3
Ticozzi, N.4
Scarlato, M.5
Galimberti, D.6
Corti, S.7
Silani, V.8
Bresolin, N.9
Comi, G.P.10
-
10
-
-
84888235194
-
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
-
van Blitterswijk, M., Baker, M.C., DeJesus-Hernandez, M., Ghidoni, R., Benussi, L., Finger, E., Hsiung, G.Y., Kelley, B.J., Murray, M.E., Rutherford, N.J., Brown, P.E., Ravenscroft, T., Mullen, B., Ash, P.E., Bieniek, K.F., Hatanpaa, K.J., Karydas, A., Wood, E.M., Coppola, G., Bigio, E.H., Lippa, C., Strong, M.J., Beach, T.G., Knopman, D.S., Huey, E.D., Mesulam, M., Bird, T., White, C.L., 3rd, Kertesz, A., Geschwind, D.H., Van Deerlin, V.M., Petersen, R.C., Binetti, G., Miller, B.L., Petrucelli, L., Wszolek, Z.K., Boylan, K.B., Graff-Radford, N.R., Mackenzie, I.R., Boeve, B.F., Dickson, D.W., Rademakers, R. 2013. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 81(15), 1332-41. doi:10.1212/WNL.0b013e3182a8250c.
-
(2013)
Neurology
, vol.81
, Issue.15
, pp. 1332-1341
-
-
van Blitterswijk, M.1
Baker, M.C.2
DeJesus-Hernandez, M.3
Ghidoni, R.4
Benussi, L.5
Finger, E.6
Hsiung, G.Y.7
Kelley, B.J.8
Murray, M.E.9
Rutherford, N.J.10
Brown, P.E.11
Ravenscroft, T.12
Mullen, B.13
Ash, P.E.14
Bieniek, K.F.15
Hatanpaa, K.J.16
Karydas, A.17
Wood, E.M.18
Coppola, G.19
Bigio, E.H.20
Lippa, C.21
Strong, M.J.22
Beach, T.G.23
Knopman, D.S.24
Huey, E.D.25
Mesulam, M.26
Bird, T.27
White, C.L.28
Kertesz, A.29
Geschwind, D.H.30
Van Deerlin, V.M.31
Petersen, R.C.32
Binetti, G.33
Miller, B.L.34
Petrucelli, L.35
Wszolek, Z.K.36
Boylan, K.B.37
Graff-Radford, N.R.38
Mackenzie, I.R.39
Boeve, B.F.40
Dickson, D.W.41
Rademakers, R.42
more..
-
11
-
-
84865071988
-
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
-
van Blitterswijk, M., van Es, M.A., Hennekam, E.A., Dooijes, D., van Rheenen, W., Medic, J., Bourque, P.R., Schelhaas, H.J., van der Kooi, A.J., de Visser, M., de Bakker, P.I., Veldink, J.H., van den Berg, L.H. 2012. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Human molecular genetics 21(17), 3776-84. doi:10.1093/hmg/dds199.
-
(2012)
Human molecular genetics
, vol.21
, Issue.17
, pp. 3776-3784
-
-
van Blitterswijk, M.1
van Es, M.A.2
Hennekam, E.A.3
Dooijes, D.4
van Rheenen, W.5
Medic, J.6
Bourque, P.R.7
Schelhaas, H.J.8
van der Kooi, A.J.9
de Visser, M.10
de Bakker, P.I.11
Veldink, J.H.12
van den Berg, L.H.13
-
12
-
-
84940741245
-
Mutation analysis of CHCHD10 in different neurodegenerative diseases
-
Zhang, M., Xi, Z., Zinman, L., Bruni, A.C., Maletta, R.G., Curcio, S.A., Rainero, I., Rubino, E., Pinessi, L., Nacmias, B., Sorbi, S., Galimberti, D., Lang, A.E., Fox, S., Surace, E.I., Ghani, M., Guo, J., Sato, C., Moreno, D., Liang, Y., Keith, J., Traynor, B.J., St George-Hyslop, P., Rogaeva, E. 2015. Mutation analysis of CHCHD10 in different neurodegenerative diseases. Brain: a journal of neurology. doi:10.1093/brain/awv082.
-
(2015)
Brain: a journal of neurology
-
-
Zhang, M.1
Xi, Z.2
Zinman, L.3
Bruni, A.C.4
Maletta, R.G.5
Curcio, S.A.6
Rainero, I.7
Rubino, E.8
Pinessi, L.9
Nacmias, B.10
Sorbi, S.11
Galimberti, D.12
Lang, A.E.13
Fox, S.14
Surace, E.I.15
Ghani, M.16
Guo, J.17
Sato, C.18
Moreno, D.19
Liang, Y.20
Keith, J.21
Traynor, B.J.22
St George-Hyslop, P.23
Rogaeva, E.24
more..
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