-
1
-
-
84876411369
-
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
-
10.1016/j.ajhg.2013.01.011 1:CAS:528:DC%2BC3sXivF2qtrg%3D 3591848 23434116 10.1016/j.ajhg.2013.01.011
-
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92(3):345-353. doi: 10.1016/j.ajhg.2013.01.011
-
(2013)
Am J Hum Genet
, vol.92
, Issue.3
, pp. 345-353
-
-
Beck, J.1
Poulter, M.2
Hensman, D.3
Rohrer, J.D.4
Mahoney, C.J.5
Adamson, G.6
Campbell, T.7
Uphill, J.8
Borg, A.9
Fratta, P.10
Orrell, R.W.11
Malaspina, A.12
Rowe, J.13
Brown, J.14
Hodges, J.15
Sidle, K.16
Polke, J.M.17
Houlden, H.18
Schott, J.M.19
Fox, N.C.20
Rossor, M.N.21
Tabrizi, S.J.22
Isaacs, A.M.23
Hardy, J.24
Warren, J.D.25
Collinge, J.26
Mead, S.27
more..
-
2
-
-
84871192467
-
Extensive genetics of ALS: A population-based study in Italy
-
Parals 10.1212/WNL.0b013e3182735d36 23100398 10.1212/WNL.0b013e3182735d36
-
Chiò A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, Corrado L, D'Alfonso S, Majounie E, Renton A, Pisano F, Ossola I, Brunetti M, Traynor BJ, Restagno G, Parals (2012) Extensive genetics of ALS: a population-based study in Italy. Neurology 79(19):1983-1989. doi: 10.1212/WNL.0b013e3182735d36
-
(2012)
Neurology
, vol.79
, Issue.19
, pp. 1983-1989
-
-
Chiò, A.1
Calvo, A.2
Mazzini, L.3
Cantello, R.4
Mora, G.5
Moglia, C.6
Corrado, L.7
D'Alfonso, S.8
Majounie, E.9
Renton, A.10
Pisano, F.11
Ossola, I.12
Brunetti, M.13
Traynor, B.J.14
Restagno, G.15
-
3
-
-
79958083935
-
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration
-
10.1007/s10048-009-0189-x 1:CAS:528:DC%2BD1MXhsVOhtbnP 19365643 10.1007/s10048-009-0189-x
-
Colombo R, Tavian D, Baker MC, Richardson AM, Snowden JS, Neary D, Mann DM, Pickering-Brown SM (2009) Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. Neurogenetics 10(4):313-318. doi: 10.1007/s10048-009-0189-x
-
(2009)
Neurogenetics
, vol.10
, Issue.4
, pp. 313-318
-
-
Colombo, R.1
Tavian, D.2
Baker, M.C.3
Richardson, A.M.4
Snowden, J.S.5
Neary, D.6
Mann, D.M.7
Pickering-Brown, S.M.8
-
4
-
-
84857054634
-
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
-
10.1093/brain/awr365 22366792 10.1093/brain/awr365
-
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 135(Pt 3):751-764. doi: 10.1093/brain/awr365
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 751-764
-
-
Cooper-Knock, J.1
Hewitt, C.2
Highley, J.R.3
Brockington, A.4
Milano, A.5
Man, S.6
Martindale, J.7
Hartley, J.8
Walsh, T.9
Gelsthorpe, C.10
Baxter, L.11
Forster, G.12
Fox, M.13
Bury, J.14
Mok, K.15
McDermott, C.J.16
Traynor, B.J.17
Kirby, J.18
Wharton, S.B.19
Ince, P.G.20
Hardy, J.21
Shaw, P.J.22
more..
-
5
-
-
34147123804
-
Ethnic variation in the incidence of ALS: A systematic review
-
10.1212/01.wnl.0000258551.96893.6f 17389304 10.1212/01.wnl.0000258551. 96893.6f
-
Cronin S, Hardiman O, Traynor BJ (2007) Ethnic variation in the incidence of ALS: a systematic review. Neurology 68(13):1002-1007. doi: 10.1212/01.wnl.0000258551.96893.6f
-
(2007)
Neurology
, vol.68
, Issue.13
, pp. 1002-1007
-
-
Cronin, S.1
Hardiman, O.2
Traynor, B.J.3
-
7
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
10.1016/j.neuron.2011.09.011 1:CAS:528:DC%2BC3MXhtlKrtL%2FP 3202986 21944778 10.1016/j.neuron.2011.09.011
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245-256. doi: 10.1016/j.neuron.2011.09.011
-
(2011)
Neuron
, vol.72
, Issue.2
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.Y.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
8
-
-
84885808774
-
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
-
10.1016/j.neuron.2013.10.015 1:CAS:528:DC%2BC3sXhs1CrurfK 24139042 10.1016/j.neuron.2013.10.015
-
Donnelly CJ, Zhang PW, Pham JT, Heusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD (2013) RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80(2):415-428. doi: 10.1016/j.neuron.2013.10.015
-
(2013)
Neuron
, vol.80
, Issue.2
, pp. 415-428
-
-
Donnelly, C.J.1
Zhang, P.W.2
Pham, J.T.3
Heusler, A.R.4
Mistry, N.A.5
Vidensky, S.6
Daley, E.L.7
Poth, E.M.8
Hoover, B.9
Fines, D.M.10
Maragakis, N.11
Tienari, P.J.12
Petrucelli, L.13
Traynor, B.J.14
Wang, J.15
Rigo, F.16
Bennett, C.F.17
Blackshaw, S.18
Sattler, R.19
Rothstein, J.D.20
more..
-
9
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study
-
10.1016/S1474-4422(11)70261-7 1:CAS:528:DC%2BC3MXhs1CisLzJ 22154785 10.1016/S1474-4422(11)70261-7
-
Gijselinck I, Van Langenhove T, van der Zee J, et al. (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 11(1):54-65. doi: 10.1016/S1474-4422(11) 70261-7
-
(2012)
Lancet Neurol
, vol.11
, Issue.1
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
Van Der Zee, J.3
-
10
-
-
84878899164
-
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
-
2234 e2213-e2239. doi: 10.1016/j.neurobiolaging.2013.03.006
-
Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A, Goate A, Ravits J, Baloh RH (2013) Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging 34(9): 2234 e2213-e2239. doi: 10.1016/j.neurobiolaging.2013.03.006
-
(2013)
Neurobiol Aging
, vol.34
, Issue.9
-
-
Harms, M.B.1
Cady, J.2
Zaidman, C.3
Cooper, P.4
Bali, T.5
Allred, P.6
Cruchaga, C.7
Baughn, M.8
Libby, R.T.9
Pestronk, A.10
Goate, A.11
Ravits, J.12
Baloh, R.H.13
-
11
-
-
84861130735
-
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis
-
10.1093/hmg/dds055 1:CAS:528:DC%2BC38XmvVygu7k%3D 22343411 10.1093/hmg/dds055
-
Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P (2012) Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet 21(11):2412-2419. doi: 10.1093/hmg/dds055
-
(2012)
Hum Mol Genet
, vol.21
, Issue.11
, pp. 2412-2419
-
-
Herdewyn, S.1
Zhao, H.2
Moisse, M.3
Race, V.4
Matthijs, G.5
Reumers, J.6
Kusters, B.7
Schelhaas, H.J.8
Van Den Berg, L.H.9
Goris, A.10
Robberecht, W.11
Lambrechts, D.12
Van Damme, P.13
-
12
-
-
3042595333
-
Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia
-
10.1086/422014 1:CAS:528:DC%2BD2cXltFClsr0%3D 1182005 15152344 10.1086/422014
-
Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP (2004) Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 75(1):3-16. doi: 10.1086/422014
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 3-16
-
-
Ikeda, Y.1
Dalton, J.C.2
Moseley, M.L.3
Gardner, K.L.4
Bird, T.D.5
Ashizawa, T.6
Seltzer, W.K.7
Pandolfo, M.8
Milunsky, A.9
Potter, N.T.10
Shoji, M.11
Vincent, J.B.12
Day, J.W.13
Ranum, L.P.14
-
13
-
-
0027251874
-
Origin of the expansion mutation in myotonic dystrophy
-
10.1038/ng0593-72 1:CAS:528:DyaK3sXktVKnsbk%3D 8513329 10.1038/ng0593-72
-
Imbert G, Kretz C, Johnson K, Mandel JL (1993) Origin of the expansion mutation in myotonic dystrophy. Nat Genet 4(1):72-76. doi: 10.1038/ng0593-72
-
(1993)
Nat Genet
, vol.4
, Issue.1
, pp. 72-76
-
-
Imbert, G.1
Kretz, C.2
Johnson, K.3
Mandel, J.L.4
-
14
-
-
84866058216
-
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan
-
10.1001/archneurol2012.1219 22637429 10.1001/archneurol.2012.1219
-
Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S (2012) C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 69(9):1154-1158. doi: 10.1001/archneurol2012.1219
-
(2012)
Arch Neurol
, vol.69
, Issue.9
, pp. 1154-1158
-
-
Ishiura, H.1
Takahashi, Y.2
Mitsui, J.3
Yoshida, S.4
Kihira, T.5
Kokubo, Y.6
Kuzuhara, S.7
Ranum, L.P.8
Tamaoki, T.9
Ichikawa, Y.10
Date, H.11
Goto, J.12
Tsuji, S.13
-
15
-
-
85058205990
-
Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China
-
doi: 10.1016/j.neurobiolaging.2013.10.001
-
Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L (2013) Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiol Aging. doi: 10.1016/j.neurobiolaging.2013.10.001
-
(2013)
Neurobiol Aging
-
-
Jiao, B.1
Tang, B.2
Liu, X.3
Yan, X.4
Zhou, L.5
Yang, Y.6
Wang, J.7
Xia, K.8
Shen, L.9
-
16
-
-
0035779379
-
Human population genetics: Lessons from Finland
-
10.1146/annurev.genom.2.1.103 1:CAS:528:DC%2BD3MXos1antLY%3D 11701645 10.1146/annurev.genom.2.1.103
-
Kere J (2001) Human population genetics: lessons from Finland. Annu Rev Genomics Hum Genet 2:103-128. doi: 10.1146/annurev.genom.2.1.103
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 103-128
-
-
Kere, J.1
-
17
-
-
84875226784
-
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
-
10.1136/jnnp-2012-302272 23012445 10.1136/jnnp-2012-302272
-
Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, Yokoseki A, Eguchi H, Kuwabara S, Nishizawa M, Takahashi H, Onodera O (2013) Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry 84(4):398-401. doi: 10.1136/jnnp-2012- 302272
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, Issue.4
, pp. 398-401
-
-
Konno, T.1
Shiga, A.2
Tsujino, A.3
Sugai, A.4
Kato, T.5
Kanai, K.6
Yokoseki, A.7
Eguchi, H.8
Kuwabara, S.9
Nishizawa, M.10
Takahashi, H.11
Onodera, O.12
-
18
-
-
0028947051
-
De novo myotonic dystrophy mutation in a Nigerian kindred
-
1:CAS:528:DyaK2MXmtF2gsLc%3D 1801445 7726160
-
Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T (1995) De novo myotonic dystrophy mutation in a Nigerian kindred. Am J Hum Genet 56(5):1067-1074
-
(1995)
Am J Hum Genet
, vol.56
, Issue.5
, pp. 1067-1074
-
-
Krahe, R.1
Eckhart, M.2
Ogunniyi, A.O.3
Osuntokun, B.O.4
Siciliano, M.J.5
Ashizawa, T.6
-
19
-
-
77956876046
-
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
-
10.1016/S1474-4422(10)70184-8 1:CAS:528:DC%2BC3cXhtFOntbvE 2965392 20801718 10.1016/S1474-4422(10)70184-8
-
Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, Traynor BJ (2010) Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 9(10):978-985. doi: 10.1016/S1474-4422(10)70184-8
-
(2010)
Lancet Neurol
, vol.9
, Issue.10
, pp. 978-985
-
-
Laaksovirta, H.1
Peuralinna, T.2
Schymick, J.C.3
Scholz, S.W.4
Lai, S.L.5
Myllykangas, L.6
Sulkava, R.7
Jansson, L.8
Hernandez, D.G.9
Gibbs, J.R.10
Nalls, M.A.11
Heckerman, D.12
Tienari, P.J.13
Traynor, B.J.14
-
20
-
-
0034977306
-
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
-
10.1038/sj.ejhg.5200656 1:CAS:528:DC%2BD3MXlt12nsLg%3D 11436124 10.1038/sj.ejhg.5200656
-
Lund A, Udd B, Juvonen V, Andersen PM, Cederquist K, Davis M, Gellera C, Kolmel C, Ronnevi LO, Sperfeld AD, Sorensen SA, Tranebjaerg L, Van Maldergem L, Watanabe M, Weber M, Yeung L, Savontaus ML (2001) Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world. Eur J Hum Genet 9(6):431-436. doi: 10.1038/sj.ejhg.5200656
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.6
, pp. 431-436
-
-
Lund, A.1
Udd, B.2
Juvonen, V.3
Andersen, P.M.4
Cederquist, K.5
Davis, M.6
Gellera, C.7
Kolmel, C.8
Ronnevi, L.O.9
Sperfeld, A.D.10
Sorensen, S.A.11
Tranebjaerg, L.12
Van Maldergem, L.13
Watanabe, M.14
Weber, M.15
Yeung, L.16
Savontaus, M.L.17
-
21
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
1:CAS:528:DC%2BC38XksFWltbo%3D 3322422 22406228 10.1016/S1474-4422(12) 70043-1
-
Majounie E, Renton AE, Mok K, et al. (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11(4):323-330
-
(2012)
Lancet Neurol
, vol.11
, Issue.4
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
-
22
-
-
81355146748
-
Chromosome 9 ALS and FTD locus is probably derived from a single founder
-
209 e203-e208. doi: 10.1016/j.neurobiolaging.2011.08.005
-
Mok K, Traynor BJ, Schymick J, et al. (2012) Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 33(1): 209 e203-e208. doi: 10.1016/j.neurobiolaging.2011.08.005
-
(2012)
Neurobiol Aging
, vol.33
, Issue.1
-
-
Mok, K.1
Traynor, B.J.2
Schymick, J.3
-
23
-
-
0020673543
-
Amyotrophic lateral sclerosis in Middle-Finland: An epidemiological study
-
1:STN:280:DyaL3s7nsVKnuw%3D%3D 6601351 10.1111/j.1600-0404.1983.tb04543.x
-
Murros K, Fogelholm R (1983) Amyotrophic lateral sclerosis in Middle-Finland: an epidemiological study. Acta Neurol Scand 67(1):41-47
-
(1983)
Acta Neurol Scand
, vol.67
, Issue.1
, pp. 41-47
-
-
Murros, K.1
Fogelholm, R.2
-
24
-
-
0028156915
-
High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
-
1:CAS:528:DyaK2cXitFCns70%3D 7909252 10.1093/hmg/3.1.45
-
Neville CE, Mahadevan MS, Barcelo JM, Korneluk RG (1994) High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet 3(1):45-51
-
(1994)
Hum Mol Genet
, vol.3
, Issue.1
, pp. 45-51
-
-
Neville, C.E.1
Mahadevan, M.S.2
Barcelo, J.M.3
Korneluk, R.G.4
-
25
-
-
84864383816
-
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
-
Japanese Consortium for Amyotrophic Lateral Sclerosis r 2527 e2511-2526. doi: 10.1016/j.neurobiolaging.2012.05.011
-
Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G, Japanese Consortium for Amyotrophic Lateral Sclerosis r (2012) Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 33(10):2527 e2511-2526. doi: 10.1016/j.neurobiolaging.2012.05.011
-
(2012)
Neurobiol Aging
, vol.33
, Issue.10
-
-
Ogaki, K.1
Li, Y.2
Atsuta, N.3
Tomiyama, H.4
Funayama, M.5
Watanabe, H.6
Nakamura, R.7
Yoshino, H.8
Yato, S.9
Tamura, A.10
Naito, Y.11
Taniguchi, A.12
Fujita, K.13
Izumi, Y.14
Kaji, R.15
Hattori, N.16
Sobue, G.17
-
26
-
-
78650437255
-
A genomic portrait of human microsatellite variation
-
10.1093/molbev/msq198 1:CAS:528:DC%2BC3cXhsF2rsLjK 20675409 10.1093/molbev/msq198
-
Payseur BA, Jing P, Haasl RJ (2011) A genomic portrait of human microsatellite variation. Mol Biol Evol 28(1):303-312. doi: 10.1093/molbev/ msq198
-
(2011)
Mol Biol Evol
, vol.28
, Issue.1
, pp. 303-312
-
-
Payseur, B.A.1
Jing, P.2
Haasl, R.J.3
-
27
-
-
0032869123
-
Molecular genetics of the Finnish disease heritage
-
1:CAS:528:DyaK1MXmslelsrw%3D 10469845 10.1093/hmg/8.10.1913
-
Peltonen L, Jalanko A, Varilo T (1999) Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8(10):1913-1923
-
(1999)
Hum Mol Genet
, vol.8
, Issue.10
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
-
28
-
-
0942301376
-
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation
-
10.1002/ajmg.b.20083 14755449 10.1002/ajmg.b.20083
-
Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M (2004) Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. Am J Med Genet B Neuropsychiatr Genet 125B(1):79-82. doi: 10.1002/ajmg.b.20083
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, vol.125
, Issue.1
, pp. 79-82
-
-
Pickering-Brown, S.1
Baker, M.2
Bird, T.3
Trojanowski, J.4
Lee, V.5
Morris, H.6
Rossor, M.7
Janssen, J.C.8
Neary, D.9
Craufurd, D.10
Richardson, A.11
Snowden, J.12
Hardy, J.13
Mann, D.14
Hutton, M.15
-
29
-
-
84864392867
-
C9ORF72 repeat expansion in a large Italian ALS cohort: Evidence of a founder effect
-
2528 e2527-e2514. doi: 10.1016/j.neurobiolaging.2012.06.008
-
Ratti A, Corrado L, Castellotti B, et al. (2012) C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging 33 (10):2528 e2527-e2514. doi: 10.1016/j.neurobiolaging.2012.06.008
-
(2012)
Neurobiol Aging
, vol.33
, Issue.10
-
-
Ratti, A.1
Corrado, L.2
Castellotti, B.3
-
30
-
-
84893649256
-
State of Play in ALS genetics
-
10.1038/nn.3584 1:CAS:528:DC%2BC3sXhvFylsrbM 24369373 10.1038/nn.3584
-
Renton AE, Chiò A, Traynor BJ (2014) State of Play in ALS genetics. Nat Neurosci 17(1):17-23. doi: 10.1038/nn.3584
-
(2014)
Nat Neurosci
, vol.17
, Issue.1
, pp. 17-23
-
-
Renton, A.E.1
Chiò, A.2
Traynor, B.J.3
-
31
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
10.1016/j.neuron.2011.09.010 1:CAS:528:DC%2BC3MXhtlKrtL%2FI 3200438 21944779 10.1016/j.neuron.2011.09.010
-
Renton AE, Majounie E, Waite A, et al. (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257-268. doi: 10.1016/j.neuron.2011.09.010
-
(2011)
Neuron
, vol.72
, Issue.2
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
-
32
-
-
84863583196
-
Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia
-
10.1186/alzrt133 1:CAS:528:DC%2BC38Xht1GnsrnE 3506944 22835154 10.1186/alzrt133
-
Schymick JC, Traynor BJ (2012) Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia. Alzheimers Res Ther 4(4):30. doi: 10.1186/alzrt133
-
(2012)
Alzheimers Res Ther
, vol.4
, Issue.4
, pp. 30
-
-
Schymick, J.C.1
Traynor, B.J.2
-
33
-
-
84871219249
-
The C9ORF72 expansion mutation is a common cause of ALS ± FTD in Europe and has a single founder
-
10.1038/ejhg.2012.98 1:CAS:528:DC%2BC38XhvVClt7%2FK 22692064 10.1038/ejhg.2012.98
-
Smith BN, Newhouse S, Shatunov A, et al. (2013) The C9ORF72 expansion mutation is a common cause of ALS ± FTD in Europe and has a single founder. Eur J Hum Genet 21(1):102-108. doi: 10.1038/ejhg.2012.98
-
(2013)
Eur J Hum Genet
, vol.21
, Issue.1
, pp. 102-108
-
-
Smith, B.N.1
Newhouse, S.2
Shatunov, A.3
-
34
-
-
84875719602
-
Frontotemporal dementia with amyotrophic lateral sclerosis: A clinical comparison of patients with and without repeat expansions in C9orf72
-
10.3109/21678421.2013.765485 1:CAS:528:DC%2BC3sXltVWrsbo%3D 23421625 10.3109/21678421.2013.765485
-
Snowden JS, Harris J, Richardson A, Rollinson S, Thompson JC, Neary D, Mann DM, Pickering-Brown S (2013) Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72. Amyotroph Lateral Scler Frontotemporal Degener 14(3):172-176. doi: 10.3109/21678421.2013.765485
-
(2013)
Amyotroph Lateral Scler Frontotemporal Degener
, vol.14
, Issue.3
, pp. 172-176
-
-
Snowden, J.S.1
Harris, J.2
Richardson, A.3
Rollinson, S.4
Thompson, J.C.5
Neary, D.6
Mann, D.M.7
Pickering-Brown, S.8
-
35
-
-
84863393065
-
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
-
10.1093/brain/awr355 22300873 10.1093/brain/awr355
-
Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A, Davidson YS, Robinson A, Gibbons L, Hu Q, DuPlessis D, Neary D, Mann DM, Pickering-Brown SM (2012) Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135(Pt 3):693-708. doi: 10.1093/brain/awr355
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 693-708
-
-
Snowden, J.S.1
Rollinson, S.2
Thompson, J.C.3
Harris, J.M.4
Stopford, C.L.5
Richardson, A.M.6
Jones, M.7
Gerhard, A.8
Davidson, Y.S.9
Robinson, A.10
Gibbons, L.11
Hu, Q.12
Duplessis, D.13
Neary, D.14
Mann, D.M.15
Pickering-Brown, S.M.16
-
36
-
-
0038665270
-
Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia
-
10.1001/archneur.60.5.698 2072863 12756133 10.1001/archneur.60.5.698
-
Sobrido MJ, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH (2003) Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia. Arch Neurol 60(5):698-702. doi: 10.1001/archneur.60.5. 698
-
(2003)
Arch Neurol
, vol.60
, Issue.5
, pp. 698-702
-
-
Sobrido, M.J.1
Miller, B.L.2
Havlioglu, N.3
Zhukareva, V.4
Jiang, Z.5
Nasreddine, Z.S.6
Lee, V.M.7
Chow, T.W.8
Wilhelmsen, K.C.9
Cummings, J.L.10
Wu, J.Y.11
Geschwind, D.H.12
-
37
-
-
84857986463
-
Road to the chromosome 9p-linked ALS/FTD locus
-
10.1136/jnnp-2012-302429 3513280 22399792 10.1136/jnnp-2012-302429
-
Traynor BJ (2012) Road to the chromosome 9p-linked ALS/FTD locus. J Neurol Neurosurg Psychiatry 83(4):356-357. doi: 10.1136/jnnp-2012-302429
-
(2012)
J Neurol Neurosurg Psychiatry
, vol.83
, Issue.4
, pp. 356-357
-
-
Traynor, B.J.1
-
38
-
-
84873093810
-
A pan-European study of the C9orf72 repeat associated with FTLD: Geographic prevalence, genomic instability, and intermediate repeats
-
10.1002/humu.22244 3638346 23111906 10.1002/humu.22244
-
van der Zee J, Gijselinck I, Dillen L, et al. (2013) A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 34(2):363-373. doi: 10.1002/humu.22244
-
(2013)
Hum Mutat
, vol.34
, Issue.2
, pp. 363-373
-
-
Van Der Zee, J.1
Gijselinck, I.2
Dillen, L.3
|