-
1
-
-
26444560660
-
Parkinsonism-dementia complex of Guam
-
Steele JC Parkinsonism-dementia complex of Guam. Mov Disord 2005; 20(SUPPL. 12):S99-S107.
-
(2005)
Mov Disord
, vol.20
, pp. S99-S107
-
-
Steele, J.C.1
-
2
-
-
0035069990
-
Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the kii peninsula of Japan: Clinical and neuropathological study and tau analysis
-
Kuzuhara S, Kokubo Y, Sasaki R, et al. Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. Ann Neurol 2001; 49: 501-511.
-
(2001)
Ann Neurol
, vol.49
, pp. 501-511
-
-
Kuzuhara, S.1
Kokubo, Y.2
Sasaki, R.3
-
3
-
-
0020078435
-
Amyotrophic lateral sclerosis and par-kinsonian syndromes in high incidence among the auyu and jakai people of West New Guinea
-
Gajdusek DC, Salazar AM. Amyotrophic lateral sclerosis and par-kinsonian syndromes in high incidence among the Auyu and Jakai people of West New Guinea. Neurology 1982; 32: 107-126.
-
(1982)
Neurology
, vol.32
, pp. 107-126
-
-
Gajdusek, D.C.1
Salazar, A.M.2
-
4
-
-
0000129778
-
Pathoanatomic changes in amyotrophic lateral sclerosis on Guam. Special reference to the occurrence of neurofibrillary changes
-
Malamud N, Hirano A, Kurland LT. Pathoanatomic changes in amyotrophic lateral sclerosis on Guam. Special reference to the occurrence of neurofibrillary changes. Arch Neurol 1961; 5: 401-415.
-
(1961)
Arch Neurol
, vol.5
, pp. 401-415
-
-
Malamud, N.1
Hirano, A.2
Kurland, L.T.3
-
5
-
-
0035164446
-
A clinical and pathological study of motor neurone disease on Guam
-
Morris HR, Al-Sarraj S, Schwab C, et al. A clinical and pathological study of motor neurone disease on Guam. Brain 2001; 124: 2215-2222.
-
(2001)
Brain
, vol.124
, pp. 2215-2222
-
-
Morris, H.R.1
Al-Sarraj, S.2
Schwab, C.3
-
6
-
-
0013901347
-
Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam. Neurological reevaluation
-
Elizan TS, Hirano A, Abrams BM, et al. Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam. Neurological reevaluation. Arch Neurol 1966; 14: 356-368.
-
(1966)
Arch Neurol
, vol.14
, pp. 356-368
-
-
Elizan, T.S.1
Hirano, A.2
Abrams, B.M.3
-
7
-
-
0000035923
-
Parkinsonism-dementia complex, an endemic disease on the island of Guam. II. Pathological features
-
Hirano A, Malamud N, Kurland LT. Parkinsonism-dementia complex, an endemic disease on the island of Guam. II. Pathological features. Brain 1961; 84: 662-679.
-
(1961)
Brain
, vol.84
, pp. 662-679
-
-
Hirano, A.1
Malamud, N.2
Kurland, L.T.3
-
8
-
-
56749098112
-
Enduring involvement of tau, beta-amyloid, alpha-synuclein, ubiquitin and TDP-43 pathology in the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam (ALS/PDC)
-
Miklossy J, Steele JC, Yu S, et al. Enduring involvement of tau, beta-amyloid, alpha-synuclein, ubiquitin and TDP-43 pathology in the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam (ALS/PDC). Acta Neuropathol 2008; 116: 625-637.
-
(2008)
Acta Neuropathol
, vol.116
, pp. 625-637
-
-
Miklossy, J.1
Steele, J.C.2
Yu, S.3
-
9
-
-
0018404316
-
Neurofibrillary degeneration on Guam: Frequency in chamorros and non chamorros with no known neurological disease
-
Anderson FH, Richardson EP Jr, Okazaki H, Brody JA. Neurofibrillary degeneration on Guam: frequency in Chamorros and non Chamorros with no known neurological disease. Brain 1979; 102: 65-77.
-
(1979)
Brain
, vol.102
, pp. 65-77
-
-
Anderson, F.H.1
Richardson, E.P.2
Okazaki, H.3
Brody, J.A.4
-
10
-
-
33847406346
-
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia
-
Sundar PD, Yu CE, Sieh W, et al. Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum Mol Genet 2007; 16: 295-306.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 295-306
-
-
Sundar, P.D.1
Yu, C.E.2
Sieh, W.3
-
11
-
-
84878803626
-
C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-parkinsonism-dementia complex
-
Dombroski BA, Galasko DR, Mata IF, et al. C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex. JAMA Neurol 2013; 70: 742-745.
-
(2013)
JAMA Neurol
, vol.70
, pp. 742-745
-
-
Dombroski, B.A.1
Galasko, D.R.2
Mata, I.F.3
-
12
-
-
34249004946
-
Prevalence of dementia in chamorros on Guam: Relationship to age, gender, education, and APOE
-
Galasko D, Salmon D, Gamst A, et al. Prevalence of dementia in Chamorros on Guam: relationship to age, gender, education, and APOE. Neurology 2007; 68: 1772-1781.
-
(2007)
Neurology
, vol.68
, pp. 1772-1781
-
-
Galasko, D.1
Salmon, D.2
Gamst, A.3
-
13
-
-
70350764965
-
Identification of novel susceptibility loci for Guam neurodegenerative disease: Challenges of genome scans in genetic isolates
-
Sieh W, Choi Y, Chapman NH, et al. Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. Hum Mol Genet 2009; 18: 3725-3738.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3725-3738
-
-
Sieh, W.1
Choi, Y.2
Chapman, N.H.3
-
14
-
-
0029115427
-
Guamanian neurodege-nerative disease: Investigation of the calcium metabolism/heavy metal hypothesis
-
Ahlskog JE, Waring SC, Kurland LT, et al. Guamanian neurodege-nerative disease: investigation of the calcium metabolism/heavy metal hypothesis. Neurology 1995; 45: 1340-1344.
-
(1995)
Neurology
, vol.45
, pp. 1340-1344
-
-
Ahlskog, J.E.1
Waring, S.C.2
Kurland, L.T.3
-
15
-
-
0013059374
-
Amyotrophic lateral sclerosis, parkinson's disease, and the amyotrophic lateral sclerosis-parkinsonism-dementia complex on Guam: A review and summary of attempts to demonstrate infection as the aetiology
-
Gibbs CJ Jr, Gajdusek DC. Amyotrophic lateral sclerosis, Parkinson's disease, and the amyotrophic lateral sclerosis-parkinsonism-dementia complex on Guam: a review and summary of attempts to demonstrate infection as the aetiology. J Clin Pathol Suppl (R Coll Pathol) 1972; 6: 132-140.
-
(1972)
J Clin Pathol Suppl (R Coll Pathol)
, vol.6
, pp. 132-140
-
-
Gibbs, C.J.1
Gajdusek, D.C.2
-
16
-
-
34249071028
-
Cycad exposure and risk of dementia, MCI, and PDC in the chamorro population of Guam
-
Borenstein AR, Mortimer JA, Schofield E, et al. Cycad exposure and risk of dementia, MCI, and PDC in the Chamorro population of Guam. Neurology 2007; 68: 1764-1771.
-
(2007)
Neurology
, vol.68
, pp. 1764-1771
-
-
Borenstein, A.R.1
Mortimer, J.A.2
Schofield, E.3
-
17
-
-
0037177086
-
Cycad neurotoxins, consumption of flying foxes, and ALS-PDC disease in Guam
-
Cox PA, Sacks OW. Cycad neurotoxins, consumption of flying foxes, and ALS-PDC disease in Guam. Neurology 2002; 58: 956-959.
-
(2002)
Neurology
, vol.58
, pp. 956-959
-
-
Cox, P.A.1
Sacks, O.W.2
-
18
-
-
44949193040
-
The ALS/PDC syndrome of Guam and the cycad hypothesis
-
Steele JC, McGeer PL. The ALS/PDC syndrome of Guam and the cycad hypothesis. Neurology 2008; 70: 1984-1990.
-
(2008)
Neurology
, vol.70
, pp. 1984-1990
-
-
Steele, J.C.1
McGeer, P.L.2
-
20
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic parkinson's disease: A clinico-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
21
-
-
20444436764
-
Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism
-
Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain 2005; 128: 1247-1258.
-
(2005)
Brain
, vol.128
, pp. 1247-1258
-
-
Williams, D.R.1
De Silva, R.2
Paviour, D.C.3
-
22
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38:e164.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
24
-
-
74949092081
-
Detection of nonneutral substitution rates on mammalian phylogenies
-
Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res 2010; 20: 110-121.
-
(2010)
Genome Res
, vol.20
, pp. 110-121
-
-
Pollard, K.S.1
Hubisz, M.J.2
Rosenbloom, K.R.3
Siepel, A.4
-
25
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
26
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
27
-
-
77955151784
-
Mutation taster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
28
-
-
10044275502
-
Analysis of the PINK1 gene in a large cohort of cases with parkinson disease
-
Rogaeva E, Johnson J, Lang AE, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol 2004; 61: 1898-1904.
-
(2004)
Arch Neurol
, vol.61
, pp. 1898-1904
-
-
Rogaeva, E.1
Johnson, J.2
Lang, A.E.3
-
29
-
-
84864931903
-
Exome sequencing identifies FUS mutations as a cause of essential tremor
-
Merner ND, Girard SL, Catoire H, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet 2012; 91: 313-319.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 313-319
-
-
Merner, N.D.1
Girard, S.L.2
Catoire, H.3
-
31
-
-
0037066131
-
ALS and PDC of Guam - Forty-year follow-up
-
Plato CC, Galasko D, Garruto RM, et al. ALS and PDC of Guam - forty-year follow-up. Neurology 2002; 58: 765-773.
-
(2002)
Neurology
, vol.58
, pp. 765-773
-
-
Plato, C.C.1
Galasko, D.2
Garruto, R.M.3
-
32
-
-
77950855127
-
PINK1-linked parkinsonism is associated with lewy body pathology
-
Samaranch L, Lorenzo-Betancor O, Arbelo JM, et al. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain 2010; 133: 1128-1142.
-
(2010)
Brain
, vol.133
, pp. 1128-1142
-
-
Samaranch, L.1
Lorenzo-Betancor, O.2
Arbelo, J.M.3
-
33
-
-
36949036676
-
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam
-
Geser F, Winton MJ, Kwong LK, et al. Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol 2008; 115: 133-145.
-
(2008)
Acta Neuropathol
, vol.115
, pp. 133-145
-
-
Geser, F.1
Winton, M.J.2
Kwong, L.K.3
-
34
-
-
34250372427
-
Deciphering the role of heterozygous mutations in genes associated with parkinsonism
-
Klein C, Lohmann-Hedrich K, Rogaeva E, et al. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007; 6: 652-662.
-
(2007)
Lancet Neurol
, vol.6
, pp. 652-662
-
-
Klein, C.1
Lohmann-Hedrich, K.2
Rogaeva, E.3
-
35
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet 2003; 33: 455-456.
-
(2003)
Nat Genet
, vol.33
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
LaMonte, B.H.3
-
37
-
-
84906087642
-
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy
-
Araki A, Tsuboi Y, Daechsel J, et al. A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. Mov Disord 2014; 29: 1201-1204.
-
(2014)
Mov Disord
, vol.29
, pp. 1201-1204
-
-
Araki, A.1
Tsuboi, Y.2
Daechsel, J.3
-
39
-
-
0037180476
-
Chromosome 3 linked frontotemporal dementia (FTD-3)
-
Gydesen S, Brown JM, Brun A, et al. Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology 2002; 59: 1585-1594.
-
(2002)
Neurology
, vol.59
, pp. 1585-1594
-
-
Gydesen, S.1
Brown, J.M.2
Brun, A.3
-
40
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005; 37: 806-808.
-
(2005)
Nat Genet
, vol.37
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
-
41
-
-
76149123541
-
The spectrum of mutations in progranulin: A collaborative study screening 545 cases of neurodegeneration
-
Yu CE, Bird TD, Bekris LM, et al. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 2010; 67: 161-170.
-
(2010)
Arch Neurol
, vol.67
, pp. 161-170
-
-
Yu, C.E.1
Bird, T.D.2
Bekris, L.M.3
-
42
-
-
0021926745
-
Disappearance of high-incidence amyotrophic lateral sclerosis and parkinsonismdementia on Guam
-
Garruto RM, Yanagihara R, Gajdusek DC. Disappearance of high-incidence amyotrophic lateral sclerosis and parkinsonismdementia on Guam. Neurology 1985; 35: 193-198.
-
(1985)
Neurology
, vol.35
, pp. 193-198
-
-
Garruto, R.M.1
Yanagihara, R.2
Gajdusek, D.C.3
|