-
1
-
-
77956155218
-
Ataxin-2 intermediatelength polyglutamine expansions are associated with increased risk for ALS
-
Elden AC, Kim HJ, Hart MP, et al. Ataxin-2 intermediatelength polyglutamine expansions are associated with increased risk for ALS. Nature 2010;466:1069-1075.
-
(2010)
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, A.C.1
Kim, H.J.2
Hart, M.P.3
-
2
-
-
0034574407
-
El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
-
World Federation of Neurology Research Group on Motor Neuron Diseases
-
Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-299.
-
(2000)
Amyotroph Lateral Scler Other Motor Neuron Disord
, vol.1
, pp. 293-299
-
-
Brooks, B.R.1
Miller, R.G.2
Swash, M.3
Munsat, T.L.4
-
3
-
-
80052938441
-
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
-
Rascovsky K, Hodges JR, Knopman D, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 2011;134:2456-2477.
-
(2011)
Brain
, vol.134
, pp. 2456-2477
-
-
Rascovsky, K.1
Hodges, J.R.2
Knopman, D.3
-
4
-
-
8944226575
-
Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): Report of the NINDSSPSP international workshop
-
Litvan I, Agid Y, Calne D, et al. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDSSPSP international workshop. Neurology 1996;47:1-9.
-
(1996)
Neurology
, vol.47
, pp. 1-9
-
-
Litvan, I.1
Agid, Y.2
Calne, D.3
-
5
-
-
34447098853
-
Progranulin null mutations in both sporadic and familial frontotemporal dementia
-
Le Ber I, van der Zee J, Hannequin D, et al. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat 2007;28:846-855.
-
(2007)
Hum Mutat
, vol.28
, pp. 846-855
-
-
Le Ber, I.1
Van Der Zee, J.2
Hannequin, D.3
-
6
-
-
84874303411
-
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: A flow-chart for genetic testing
-
Le Ber I, Camuzat A, Guillot-Noel L, et al. C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. J Alzheimers Dis 2013;34:485-499.
-
(2013)
J Alzheimers Dis
, vol.34
, pp. 485-499
-
-
Le Ber, I.1
Camuzat, A.2
Guillot-Noel, L.3
-
7
-
-
84875272260
-
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France
-
Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E. Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France. Neurobiol Aging 2013;34:1709.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1709
-
-
Lattante, S.1
Le Ber, I.2
Camuzat, A.3
Brice, A.4
Kabashi, E.5
-
8
-
-
84877611002
-
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients
-
Lattante S, Le Ber I, Camuzat A, et al. Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients. Neurobiol Aging 2013;34:2078.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 2078
-
-
Lattante, S.1
Le Ber, I.2
Camuzat, A.3
-
9
-
-
84888882093
-
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis
-
Le Ber I, Camuzat A, Guerreiro R, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol 2013;70:1403-1410.
-
(2013)
JAMA Neurol
, vol.70
, pp. 1403-1410
-
-
Le Ber, I.1
Camuzat, A.2
Guerreiro, R.3
-
10
-
-
84879885915
-
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia
-
Lattante S, Le Ber I, Camuzat A, et al. TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia. Neurobiol Aging 2013;34:2443.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 2443
-
-
Lattante, S.1
Le Ber, I.2
Camuzat, A.3
-
11
-
-
84864083825
-
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALSrelated genes
-
Millecamps S, Boillée S, Le Ber I, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALSrelated genes. J Med Genet 2012;49:258-263.
-
(2012)
J Med Genet
, vol.49
, pp. 258-263
-
-
Millecamps, S.1
Boillée, S.2
Le Ber, I.3
-
12
-
-
77955396350
-
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: Genotype-phenotype correlations
-
Millecamps S, Salachas F, Cazeneuve C, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet 2010;47:554-560.
-
(2010)
J Med Genet
, vol.47
, pp. 554-560
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
-
13
-
-
79952898709
-
Screening of OPTN in French familial amyotrophic lateral sclerosis
-
Millecamps S, Boillée S, Chabrol E, et al. Screening of OPTN in French familial amyotrophic lateral sclerosis. Neurobiol Aging 2011;32:557.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 557
-
-
Millecamps, S.1
Boillée, S.2
Chabrol, E.3
-
14
-
-
84876533723
-
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: Genetics and neuropathology
-
Teyssou E, Takeda T, Lebon V, et al. Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. Acta Neuropathol 2013;125:511-522.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 511-522
-
-
Teyssou, E.1
Takeda, T.2
Lebon, V.3
-
15
-
-
84856975767
-
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
-
Millecamps S, Corcia P, Cazeneuve C, et al. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis. Neurobiol Aging 2012;33:839.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 839
-
-
Millecamps, S.1
Corcia, P.2
Cazeneuve, C.3
-
16
-
-
84893715551
-
Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis
-
Teyssou E, Vandenberghe N, Moigneu C, et al. Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis. Neurobiol Aging 2014;35:1213.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 1213
-
-
Teyssou, E.1
Vandenberghe, N.2
Moigneu, C.3
-
17
-
-
79959653680
-
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
-
Van Damme P, Veldink JH, van Blitterswijk M, et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 2011;76:2066-2072.
-
(2011)
Neurology
, vol.76
, pp. 2066-2072
-
-
Van Damme, P.1
Veldink, J.H.2
Van Blitterswijk, M.3
-
18
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
-
Cancel G, Dürr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-715.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 709-715
-
-
Cancel, G.1
Dürr, A.2
Didierjean, O.3
-
19
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
20
-
-
84873033993
-
Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis
-
Farg MA, Soo KY, Warraich ST, Sundaramoorthy V, Blair IP, Atkin JD. Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis. Hum Mol Genet 2013;22:717-728.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 717-728
-
-
Farg, M.A.1
Soo, K.Y.2
Warraich, S.T.3
Sundaramoorthy, V.4
Blair, I.P.5
Atkin, J.D.6
-
21
-
-
80054874200
-
ATXN-2 CAG repeat expansions are interrupted in ALS patients
-
Corrado L, Mazzini L, Oggioni GD, et al. ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet 2011;130:575-580.
-
(2011)
Hum Genet
, vol.130
, pp. 575-580
-
-
Corrado, L.1
Mazzini, L.2
Oggioni, G.D.3
-
22
-
-
79958746230
-
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis
-
Daoud H, Belzil V, Martins S, et al. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol 2011;68:739-742.
-
(2011)
Arch Neurol
, vol.68
, pp. 739-742
-
-
Daoud, H.1
Belzil, V.2
Martins, S.3
-
23
-
-
79959652226
-
Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
-
Lee T, Li YR, Chesi A, et al. Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 2011;76:2062-2065.
-
(2011)
Neurology
, vol.76
, pp. 2062-2065
-
-
Lee, T.1
Li, Y.R.2
Chesi, A.3
-
24
-
-
79960811611
-
Ataxin-2 repeatlength variation and neurodegeneration
-
Ross OA, Rutherford NJ, Baker M, et al. Ataxin-2 repeatlength variation and neurodegeneration. Hum Mol Genet 2011;20:3207-3212.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3207-3212
-
-
Ross, O.A.1
Rutherford, N.J.2
Baker, M.3
-
25
-
-
79958763814
-
ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion
-
Sorarù G, Clementi M, Forzan M, et al. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology 2011;76: 2030-2031.
-
(2011)
Neurology
, vol.76
, pp. 2030-2031
-
-
Sorarù, G.1
Clementi, M.2
Forzan, M.3
-
26
-
-
79953200132
-
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats
-
Yu Z, Zhu Y, Chen-Plotkin AS, et al. PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One 2011;6:e17951.
-
(2011)
PLoS One
, vol.6
, pp. e17951
-
-
Yu, Z.1
Zhu, Y.2
Chen-Plotkin, A.S.3
-
27
-
-
84871347709
-
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
-
Conforti FL, Spataro R, Sproviero W, et al. Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. Neurology 2012;79:2315-2320.
-
(2012)
Neurology
, vol.79
, pp. 2315-2320
-
-
Conforti, F.L.1
Spataro, R.2
Sproviero, W.3
-
28
-
-
81955162888
-
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect
-
Gispert S, Kurz A, Waibel S, et al. The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 2012;45:356-361.
-
(2012)
Neurobiol Dis
, vol.45
, pp. 356-361
-
-
Gispert, S.1
Kurz, A.2
Waibel, S.3
-
29
-
-
84861888532
-
ATAXIN2 CAGrepeat length in Italian patients with amyotrophic lateral sclerosis: Risk factor or variant phenotype? Implication for genetic testing and counseling
-
Gellera C, Ticozzi N, Pensato V, et al. ATAXIN2 CAGrepeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling. Neurobiol Aging 2012; 33:1847.e15-21.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1847e15-21
-
-
Gellera, C.1
Ticozzi, N.2
Pensato, V.3
-
30
-
-
84863602161
-
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
-
Lattante S, Conte A, Zollino M, et al. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 2012;79:66-72.
-
(2012)
Neurology
, vol.79
, pp. 66-72
-
-
Lattante, S.1
Conte, A.2
Zollino, M.3
-
31
-
-
84858337987
-
Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts
-
Van Langenhove T, van der Zee J, Engelborghs S, et al. Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol Aging 2012;33:1004.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1004
-
-
Van Langenhove, T.1
Van Der Zee, J.2
Engelborghs, S.3
-
32
-
-
84878930835
-
ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis
-
Liu X, Lu M, Tang L, Zhang N, Chui D, Fan D. ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2013;34:2236.e5-8.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 2236e5-8
-
-
Liu, X.1
Lu, M.2
Tang, L.3
Zhang, N.4
Chui, D.5
Fan, D.6
-
33
-
-
85058204938
-
The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease
-
Yamashita C, Tomiyama H, Funayama M, et al. The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease. Neurobiol Aging 2014;35:1779.e17-21.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 1779e17-21
-
-
Yamashita, C.1
Tomiyama, H.2
Funayama, M.3
-
34
-
-
36349021396
-
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism
-
Charles P, Camuzat A, Benammar N, et al. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? Neurology 2007;69:1970-1975.
-
(2007)
Neurology
, vol.69
, pp. 1970-1975
-
-
Charles, P.1
Camuzat, A.2
Benammar, N.3
-
35
-
-
84865071988
-
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
-
van Blitterswijk M, van Es MA, Hennekam EA, et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 2012;21:3776-3784.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3776-3784
-
-
Van Blitterswijk, M.1
Van Es, M.A.2
Hennekam, E.A.3
-
36
-
-
84870041158
-
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders
-
van Blitterswijk M, DeJesus-Hernandez M, Rademakers R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol 2012;25:689-700.
-
(2012)
Curr Opin Neurol
, vol.25
, pp. 689-700
-
-
Van Blitterswijk, M.1
Dejesus-Hernandez, M.2
Rademakers, R.3
|