-
1
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
MacDonald M., Ambrose C.M., Duyao M.P., et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72 (1993) 971-983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
MacDonald, M.1
Ambrose, C.M.2
Duyao, M.P.3
-
2
-
-
0029098272
-
The epidemiology of Huntington disease in northern Ireland
-
Morrison P.J., Johnston W.P., and Nevin N.C. The epidemiology of Huntington disease in northern Ireland. J Med Genet 32 (1995) 524-530
-
(1995)
J Med Genet
, vol.32
, pp. 524-530
-
-
Morrison, P.J.1
Johnston, W.P.2
Nevin, N.C.3
-
3
-
-
0032231383
-
A Huntington disease-like neurodegenerative disorder maps to chromosome 20p
-
Xiang F., Almqvist E.W., Huq M., et al. A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. Am J Hum Genet 63 (1998) 1431-1438
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1431-1438
-
-
Xiang, F.1
Almqvist, E.W.2
Huq, M.3
-
4
-
-
0034741742
-
A Disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
-
Margolis R.L., O'Hearn E., Rosenblatt A., et al. A Disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 50 (2001) 373-380
-
(2001)
Ann Neurol
, vol.50
, pp. 373-380
-
-
Margolis, R.L.1
O'Hearn, E.2
Rosenblatt, A.3
-
5
-
-
0033911804
-
Localisation of the gene for a novel Autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3
-
Kambouris M., Bohlega S., Al-Tahan A., and Meyer B.F. Localisation of the gene for a novel Autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 66 (2000) 445-452
-
(2000)
Am J Hum Genet
, vol.66
, pp. 445-452
-
-
Kambouris, M.1
Bohlega, S.2
Al-Tahan, A.3
Meyer, B.F.4
-
6
-
-
0034941118
-
Mutation in the gene encoding Ferritin light polypeptide causes dominant adult-onset basal ganglia disease
-
Curtis A.R.J., Fey C., Morris C.M., et al. Mutation in the gene encoding Ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 28 (2001) 350-354
-
(2001)
Nat Genet
, vol.28
, pp. 350-354
-
-
Curtis, A.R.J.1
Fey, C.2
Morris, C.M.3
-
7
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-palidoluysian atrophy (DRPLA)
-
Koide R., Ikeuchi I., Onodera O., et al. Unstable expansion of CAG repeat in hereditary dentatorubral-palidoluysian atrophy (DRPLA). Nat Genet 6 (1994) 9-13
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, I.2
Onodera, O.3
-
8
-
-
0035936637
-
Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats
-
Shimojo Y., Osawa Y., Fukumizu M., et al. Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. Neurology 56 (2001) 277-279
-
(2001)
Neurology
, vol.56
, pp. 277-279
-
-
Shimojo, Y.1
Osawa, Y.2
Fukumizu, M.3
-
9
-
-
0036157660
-
Juvenile Dentatorubral-pallidoluysian atrophy: new clinical features
-
Licht D.J., and Lynch D.R. Juvenile Dentatorubral-pallidoluysian atrophy: new clinical features. Pediat Neurol 26 (2002) 51-54
-
(2002)
Pediat Neurol
, vol.26
, pp. 51-54
-
-
Licht, D.J.1
Lynch, D.R.2
-
10
-
-
0034967701
-
The gene encoding a newly discovered protein, chorein is mutated in chorea-acanthocytosis
-
Ueno S.-I., Maruki Y., Nakamura M., et al. The gene encoding a newly discovered protein, chorein is mutated in chorea-acanthocytosis. Nat Genet 28 (2001) 121-122
-
(2001)
Nat Genet
, vol.28
, pp. 121-122
-
-
Ueno, S.-I.1
Maruki, Y.2
Nakamura, M.3
-
11
-
-
18744385813
-
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
-
Dobson-Stone C., Danek A., Rampoldi L., et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10 (2002) 773-781
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 773-781
-
-
Dobson-Stone, C.1
Danek, A.2
Rampoldi, L.3
-
12
-
-
18344393450
-
Mutations In TITF-1 are associated with benign hereditary chorea
-
Breedveld G.J., Van Dongen J.W.F., Danesino C., et al. Mutations In TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11 (2002) 971-979
-
(2002)
Hum Mol Genet
, vol.11
, pp. 971-979
-
-
Breedveld, G.J.1
Van Dongen, J.W.F.2
Danesino, C.3
-
13
-
-
0027443824
-
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea
-
MacMillan J.C., Morrison P.J., Nevin N.C., et al. Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. J Med Genet 30 (1993) 1012-1013
-
(1993)
J Med Genet
, vol.30
, pp. 1012-1013
-
-
MacMillan, J.C.1
Morrison, P.J.2
Nevin, N.C.3
-
14
-
-
0029896267
-
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q
-
Fouad G.T., Servidei S., Durcan S., et al. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 59 (1996) 135-139
-
(1996)
Am J Hum Genet
, vol.59
, pp. 135-139
-
-
Fouad, G.T.1
Servidei, S.2
Durcan, S.3
-
15
-
-
3142721995
-
Myofibrillogenesis regular I gene mutations cause Paroxysmal dystonic choreoathetosis
-
Rainier S., Thomas D., Tokarz D., Ming L., Bui M., Plein E., et al. Myofibrillogenesis regular I gene mutations cause Paroxysmal dystonic choreoathetosis. Arch Neurol 61 (2004) 1025-1029
-
(2004)
Arch Neurol
, vol.61
, pp. 1025-1029
-
-
Rainier, S.1
Thomas, D.2
Tokarz, D.3
Ming, L.4
Bui, M.5
Plein, E.6
-
16
-
-
0031457049
-
Paroxysmal dystonic choreoathetosis. Genetic linkage analysis in a British family
-
Jarman P.R., Davis M.B., Hodgson S.V., et al. Paroxysmal dystonic choreoathetosis. Genetic linkage analysis in a British family. Brain 120 (1997) 2125-2130
-
(1997)
Brain
, vol.120
, pp. 2125-2130
-
-
Jarman, P.R.1
Davis, M.B.2
Hodgson, S.V.3
-
17
-
-
0030766418
-
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
-
Szeptowski P., Rochette J., Berquin P., et al. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 61 (1997) 889-898
-
(1997)
Am J Hum Genet
, vol.61
, pp. 889-898
-
-
Szeptowski, P.1
Rochette, J.2
Berquin, P.3
-
18
-
-
0033361838
-
Paroxysmal Kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
-
Tomita H., Nagamitsu S., Wakui K., et al. Paroxysmal Kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 65 (1999) 1688-1697
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1688-1697
-
-
Tomita, H.1
Nagamitsu, S.2
Wakui, K.3
-
19
-
-
0033775093
-
A second Paroxysmal Kinesigenic choreoathetosis locus (EDK2) mapping on 16q13-q22.1 indicates a family of genes which give rise to Paroxysmal disorders on human chromosome 16
-
Valente E.M., Spacey S.D., Wali G.M., et al. A second Paroxysmal Kinesigenic choreoathetosis locus (EDK2) mapping on 16q13-q22.1 indicates a family of genes which give rise to Paroxysmal disorders on human chromosome 16. Brain 123 (2000) 2040-2045
-
(2000)
Brain
, vol.123
, pp. 2040-2045
-
-
Valente, E.M.1
Spacey, S.D.2
Wali, G.M.3
-
20
-
-
18744402265
-
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene
-
Spacey S.D., Valente E.M., Wali G.M., et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 17 (2002) 717-725
-
(2002)
Mov Disord
, vol.17
, pp. 717-725
-
-
Spacey, S.D.1
Valente, E.M.2
Wali, G.M.3
-
21
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi R.E., Petrukhin K., Chernov I., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5 (1993) 344-350
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
22
-
-
0033365010
-
A new neurological syndrome with mental retardation, choreoathetosis and abnormal behaviour maps to chromosome Xp11
-
Reyniers E., Van Bogaert P., Peeters N., et al. A new neurological syndrome with mental retardation, choreoathetosis and abnormal behaviour maps to chromosome Xp11. Am J Hum Genet 65 (1999) 1406-1412
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1406-1412
-
-
Reyniers, E.1
Van Bogaert, P.2
Peeters, N.3
-
23
-
-
16944361915
-
Mapping of a familial essential tremor gene FET1, to chromosome 3q13
-
Gulcher J.R., Jonsson P., Kong A., et al. Mapping of a familial essential tremor gene FET1, to chromosome 3q13. Nat Genet 17 (1997) 84-87
-
(1997)
Nat Genet
, vol.17
, pp. 84-87
-
-
Gulcher, J.R.1
Jonsson, P.2
Kong, A.3
-
24
-
-
33746043780
-
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor
-
Jeanneteau F., Funalot B., Jankovic J., Deng H., Lagarde J.P., Lucotte G., et al. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc Nat Acad Sci 103 (2006) 10753-10758
-
(2006)
Proc Nat Acad Sci
, vol.103
, pp. 10753-10758
-
-
Jeanneteau, F.1
Funalot, B.2
Jankovic, J.3
Deng, H.4
Lagarde, J.P.5
Lucotte, G.6
-
25
-
-
0031769723
-
Evidence that a gene for essential tremor maps to chromosome 2p in four families
-
Higgins J.J., Loveless J.M., Jankovic J., and Patel P.I. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Movement Disord 13 (1998) 972-977
-
(1998)
Movement Disord
, vol.13
, pp. 972-977
-
-
Higgins, J.J.1
Loveless, J.M.2
Jankovic, J.3
Patel, P.I.4
-
26
-
-
0030725721
-
A gene (ETM) for essential tremor maps to chromosome 2p22-p25
-
Higgins J.J., Pho L.T., and Nee L.E. A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Movement Disord 12 (1997) 859-864
-
(1997)
Movement Disord
, vol.12
, pp. 859-864
-
-
Higgins, J.J.1
Pho, L.T.2
Nee, L.E.3
-
27
-
-
0030773499
-
Hereditary geniospasm: linkage to Chromosome 9q13-q21 and evidence for genetic heterogeneity
-
Jarman P.R., Wood N.W., Davis M.T., et al. Hereditary geniospasm: linkage to Chromosome 9q13-q21 and evidence for genetic heterogeneity. Am J Hum Genet 61 (1997) 928-933
-
(1997)
Am J Hum Genet
, vol.61
, pp. 928-933
-
-
Jarman, P.R.1
Wood, N.W.2
Davis, M.T.3
-
28
-
-
0036869117
-
Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 locus
-
Grimes D.A., Han F., Bulman D., Nicolson M.L., and Suchowersky O. Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 locus. Mov Disord 17 (2002) 1390-1392
-
(2002)
Mov Disord
, vol.17
, pp. 1390-1392
-
-
Grimes, D.A.1
Han, F.2
Bulman, D.3
Nicolson, M.L.4
Suchowersky, O.5
-
29
-
-
0344837904
-
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
-
Defazio G., Brancati F., Valente E.M., et al. Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. Mov Disord 18 (2003) 207-212
-
(2003)
Mov Disord
, vol.18
, pp. 207-212
-
-
Defazio, G.1
Brancati, F.2
Valente, E.M.3
-
30
-
-
0035074056
-
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder
-
Fernandez M., Raskind W., Wolff J., et al. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol 49 (2001) 486-492
-
(2001)
Ann Neurol
, vol.49
, pp. 486-492
-
-
Fernandez, M.1
Raskind, W.2
Wolff, J.3
-
31
-
-
0030744876
-
Mutation in the α-Synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos M.H., Lavedan C., Leroy E., et al. Mutation in the α-Synuclein gene identified in families with Parkinson's disease. Science 276 (1997) 2045-2047
-
(1997)
Science
, vol.276
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
-
32
-
-
0031951197
-
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
-
Gasser T., Muller-Myhsok B., Wszolek Z.K., et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nature Genet 18 (1998) 262-265
-
(1998)
Nature Genet
, vol.18
, pp. 262-265
-
-
Gasser, T.1
Muller-Myhsok, B.2
Wszolek, Z.K.3
-
33
-
-
0032911910
-
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
-
Farrer M.J., Gwinn-Hardy K., Muenter M., et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 8 (1999) 81-85
-
(1999)
Hum Mol Genet
, vol.8
, pp. 81-85
-
-
Farrer, M.J.1
Gwinn-Hardy, K.2
Muenter, M.3
-
34
-
-
12144289221
-
UCHL1 Global Genetics Consortium. UCHL1 is a Parkinson's disease susceptibility gene
-
Maraganore D.M., Lesnick T.G., Elbaz A., Chartier-Harlin M.C., Gasser T., Kruger R., et al. UCHL1 Global Genetics Consortium. UCHL1 is a Parkinson's disease susceptibility gene. Ann Neurol 55 (2004) 512-521
-
(2004)
Ann Neurol
, vol.55
, pp. 512-521
-
-
Maraganore, D.M.1
Lesnick, T.G.2
Elbaz, A.3
Chartier-Harlin, M.C.4
Gasser, T.5
Kruger, R.6
-
35
-
-
28544441181
-
Mutations in the gene LRRK2 encoding Dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data
-
Khan N.L., Jaint S., Lynch J.J., Pavese N., Abou-Sleiman P., Holton J.L., et al. Mutations in the gene LRRK2 encoding Dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 128 (2006) 2786-2796
-
(2006)
Brain
, vol.128
, pp. 2786-2796
-
-
Khan, N.L.1
Jaint, S.2
Lynch, J.J.3
Pavese, N.4
Abou-Sleiman, P.5
Holton, J.L.6
-
36
-
-
0036830525
-
A susceptibility gene for late onset idiopathic Parkinson's disease
-
Hicks A.A., Petursson H., Jonsson T., et al. A susceptibility gene for late onset idiopathic Parkinson's disease. Ann Neurol 52 (2002) 549-555
-
(2002)
Ann Neurol
, vol.52
, pp. 549-555
-
-
Hicks, A.A.1
Petursson, H.2
Jonsson, T.3
-
37
-
-
0345701479
-
Significant linkage of Parkinson disease to chromosome 2q36-37
-
Pankratz N., Nichols W.C., Uniake S.K., et al. Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet 72 (2003) 1053-1057
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1053-1057
-
-
Pankratz, N.1
Nichols, W.C.2
Uniake, S.K.3
-
38
-
-
25444498785
-
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
-
Strauss K.M., Martins L.M., Plun-Favreau H., Marx F.P., Kautzmann S., Berg D., et al. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet 14 15 (2005) 2099-2111
-
(2005)
Hum Mol Genet
, vol.14
, Issue.15
, pp. 2099-2111
-
-
Strauss, K.M.1
Martins, L.M.2
Plun-Favreau, H.3
Marx, F.P.4
Kautzmann, S.5
Berg, D.6
-
39
-
-
0037226797
-
Mutations in NR4A2 associated with familial Parkinson disease
-
Le W., Xu P., Jancovic J., et al. Mutations in NR4A2 associated with familial Parkinson disease. Nature Genet 33 (2003) 85-89
-
(2003)
Nature Genet
, vol.33
, pp. 85-89
-
-
Le, W.1
Xu, P.2
Jancovic, J.3
-
40
-
-
0029996628
-
Familial autosomal dominant Dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset
-
Morrison P.J., Godwin-Austen R.B., and Raeburn J.A. Familial autosomal dominant Dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset. J Med Genet 33 (1996) 504-506
-
(1996)
J Med Genet
, vol.33
, pp. 504-506
-
-
Morrison, P.J.1
Godwin-Austen, R.B.2
Raeburn, J.A.3
-
41
-
-
0030692086
-
Association of slow acetylator genotype for N-acetyltransferase with familial Parkinson's disease
-
Bandmann O., Vaughan J., Holmans P., et al. Association of slow acetylator genotype for N-acetyltransferase with familial Parkinson's disease. Lancet 350 (1997) 1136-1139
-
(1997)
Lancet
, vol.350
, pp. 1136-1139
-
-
Bandmann, O.1
Vaughan, J.2
Holmans, P.3
-
42
-
-
9044220964
-
Localisation of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21
-
Wijker M., Wszolek Z.K., Wolters E.C.H., et al. Localisation of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 5 (1996) 151-154
-
(1996)
Hum Mol Genet
, vol.5
, pp. 151-154
-
-
Wijker, M.1
Wszolek, Z.K.2
Wolters, E.C.H.3
-
43
-
-
15444356436
-
Localisation of Frontotemporal dementia with Parkinsonism in an Australian kindred to chromosome 17q21
-
Baker M., Kwok J.B.J., Kucera S., et al. Localisation of Frontotemporal dementia with Parkinsonism in an Australian kindred to chromosome 17q21. Ann Neurol 42 (1997) 794-798
-
(1997)
Ann Neurol
, vol.42
, pp. 794-798
-
-
Baker, M.1
Kwok, J.B.J.2
Kucera, S.3
-
44
-
-
0033545946
-
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
-
D'Souza I., Poorkaj P., Hong M., et al. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Nat Acad Sci 96 (1999) 5598-5603
-
(1999)
Proc Nat Acad Sci
, vol.96
, pp. 5598-5603
-
-
D'Souza, I.1
Poorkaj, P.2
Hong, M.3
-
46
-
-
16944362288
-
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27
-
Matsumine H., Saito M., Shimoda-Matsubayashi S., et al. Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 60 (1997) 588-596
-
(1997)
Am J Hum Genet
, vol.60
, pp. 588-596
-
-
Matsumine, H.1
Saito, M.2
Shimoda-Matsubayashi, S.3
-
47
-
-
0032499264
-
Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism
-
Kitada T., Asakawa S., Hattori N., et al. Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism. Nature 392 (1998) 605-608
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
-
48
-
-
0345490853
-
A wide variety of mutations in the parkin gene are responsible for autosomal recessive Parkinsonism in Europe
-
Abbas N., Lucking C.B., Ricard S., et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive Parkinsonism in Europe. Hum Mol Gen 8 (1999) 567-574
-
(1999)
Hum Mol Gen
, vol.8
, pp. 567-574
-
-
Abbas, N.1
Lucking, C.B.2
Ricard, S.3
-
49
-
-
0035068574
-
Localization of a novel locus for autosomal recessive early-onset Parkinsonism PARK6, on human chromosome 1p35-36
-
Valente E.M., Bentivoglio A.R., Dixon P.H., et al. Localization of a novel locus for autosomal recessive early-onset Parkinsonism PARK6, on human chromosome 1p35-36. Am J Hum Genet 68 (2001) 895-900
-
(2001)
Am J Hum Genet
, vol.68
, pp. 895-900
-
-
Valente, E.M.1
Bentivoglio, A.R.2
Dixon, P.H.3
-
50
-
-
0034892917
-
PARK7 a novel locus for autosomal recessive early-onset Parkinsonism on chromosome 1p36
-
van Duijn C.M., Dekker M.C.J., Bonifati V., et al. PARK7 a novel locus for autosomal recessive early-onset Parkinsonism on chromosome 1p36. Am J Hum Genet 69 (2001) 629-634
-
(2001)
Am J Hum Genet
, vol.69
, pp. 629-634
-
-
van Duijn, C.M.1
Dekker, M.C.J.2
Bonifati, V.3
-
51
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism
-
Bonifati V., Rizzu P., van Baren M.J., et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science 299 (2003) 256-259
-
(2003)
Science
, vol.299
, pp. 256-259
-
-
Bonifati, V.1
Rizzu, P.2
van Baren, M.J.3
-
52
-
-
0034796326
-
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia maps to 1p36
-
Hampshire D.J., Roberts E., Crow Y., et al. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia maps to 1p36. J Med Genet 38 (2001) 680-682
-
(2001)
J Med Genet
, vol.38
, pp. 680-682
-
-
Hampshire, D.J.1
Roberts, E.2
Crow, Y.3
-
53
-
-
33749133430
-
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
-
Ramirez A., Heimbach A., Grundemann J., Stiller B., Hampshire D., Cid L.P., et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nature Genet 38 10 (2006) 1184-1191
-
(2006)
Nature Genet
, vol.38
, Issue.10
, pp. 1184-1191
-
-
Ramirez, A.1
Heimbach, A.2
Grundemann, J.3
Stiller, B.4
Hampshire, D.5
Cid, L.P.6
-
54
-
-
10744223494
-
Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families
-
Pankratz N., Nichols W.C., Uniacke S.K., Halter C., Murrell J., Rudolph A., et al. Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum Mol Genet 12 (2003) 2599-2608
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2599-2608
-
-
Pankratz, N.1
Nichols, W.C.2
Uniacke, S.K.3
Halter, C.4
Murrell, J.5
Rudolph, A.6
-
55
-
-
0029135425
-
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1
-
Haberhausen G., Schmitt I., Kohler A., et al. Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. Am J Hum Genet 57 (1995) 644-650
-
(1995)
Am J Hum Genet
, vol.57
, pp. 644-650
-
-
Haberhausen, G.1
Schmitt, I.2
Kohler, A.3
-
56
-
-
0035838379
-
Intention tremor, parkinsonism and generalised brain atrophy in male carriers of fragile X
-
Hagerman R.J., Leehey M., Heinrichs W., et al. Intention tremor, parkinsonism and generalised brain atrophy in male carriers of fragile X. Neurology 57 (2001) 127-130
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
-
57
-
-
0030059804
-
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase 1 gene and evidence for genetic heterogeneity
-
Bandmann O., Nygaard T.G., Surtees R., et al. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase 1 gene and evidence for genetic heterogeneity. Hum Mol Genet 5 (1996) 403-406
-
(1996)
Hum Mol Genet
, vol.5
, pp. 403-406
-
-
Bandmann, O.1
Nygaard, T.G.2
Surtees, R.3
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