-
1
-
-
0001478040
-
Autosomal dominant myofibrillar inclusion body myopathy: Clinical, histologic, histochemical, and ultrastructural characteristics
-
(1978)
Neurology
, vol.28
, pp. 399
-
-
Clark, J.R.1
D'Agostino, A.N.2
Wilson, J.3
Brooks, R.R.4
Cole, G.C.5
-
3
-
-
0035068226
-
A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci
-
(2001)
Ann Neurol
, vol.49
, pp. 443-452
-
-
Chinnery, P.F.1
Johnson, M.A.2
Walls, T.J.3
Gibson, G.J.4
Fawcett, P.R.W.5
Jamieson, S.6
Fulthorpe, J.J.7
Cullen, M.8
Hudgson, P.9
Bushby, K.10
-
6
-
-
85031471054
-
Bac based physical map of the distal hereditary motor neuronopathy (HMN-J) and autosomal recessive inclusion body myopathy (AR-IBM) region on chromosome 9p21.1-p12
-
(2000)
Am J Hum Genet
, vol.67
, Issue.SUPPL.
-
-
Neocleous, V.1
Humphray, S.J.2
Howard, P.J.3
Hammond, S.4
Tsingis, M.5
Georgiou, A.6
Al-Qudah, A.K.7
Mubaidin, A.8
Horani, K.9
Askanas, V.10
Engel, K.11
Dalakas, M.12
Rowland, L.P.13
Mirabella, M.14
Zamba, E.15
Kyriakides, T.16
Middleton, L.T.17
Christodoulou, K.18
-
7
-
-
0034879077
-
Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 501-509
-
-
Eisenberg, I.1
Hochner, H.2
Shemesh, M.3
Levi, T.4
Potikha, T.5
Sadeh, M.6
Argov, Z.7
Jackson, C.L.8
Mitrani-Rosenbaum, S.9
-
8
-
-
0030933296
-
Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
-
(1997)
Ann Neurol
, vol.41
, pp. 432-437
-
-
Ikeuchi, T.1
Asaka, T.2
Saito, M.3
Tanaka, H.4
Higuchi, S.5
Tanaka, K.6
Saida, K.7
Uyama, E.8
Mizusawa, H.9
Fukuhara, N.10
Nonaka, I.11
Takamori, M.12
Tsuji, S.13
-
11
-
-
0033987358
-
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis
-
(2000)
Nature Genet
, vol.24
, pp. 45-48
-
-
Hughes, A.E.1
Ralston, S.H.2
Marken, J.3
Bell, C.4
MacPherson, H.5
Wallace, R.G.6
Van Hul, W.7
Whyte, M.P.8
Nakatsuka, K.9
Hovy, L.10
Anderson, D.M.11
-
12
-
-
0034883779
-
Paget Disease of Bone: Mapping of two loci at 5q35-qter and 5q31
-
Am J Hum Genet
, vol.69
, pp. 528-543
-
-
Laurin, N.1
Brown, J.P.2
Lemainque, A.3
Duchesne, A.4
Huot, D.5
Lacourcière, Y.6
Drapeau, G.7
Verreault, J.8
Raymond, V.9
Morissette, J.10
-
13
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
Passant, U.4
Tuss, D.5
Black, S.6
Freedman, M.7
Kertesz, A.8
Robert, P.H.9
Albert, M.10
Boone, K.11
Miller, B.L.12
Cummings, J.13
Benson, D.F.14
-
18
-
-
0027948959
-
Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex
-
(1994)
Neurology
, vol.4
, pp. 1878-1884
-
-
Lynch, T.1
Sano, M.2
Marder, K.S.3
Bell, K.L.4
Foster, N.L.5
Defendini, R.F.6
Sima, A.A.7
Keohane, C.8
Nygaard, T.G.9
Fahn, S.10
-
19
-
-
0031799683
-
Hereditary dysphasic disinhibition dementia: A frontotemporal dementia linked to 17q21-22
-
(1998)
Neurology
, vol.50
, pp. 1546-1555
-
-
Lendon, C.L.1
Lynch, T.2
Norton, J.3
McKeel D.W., Jr.4
Busfield, F.5
Craddock, N.6
Chakraverty, S.7
Gopalakrishnan, G.8
Shears, S.D.9
Grimmett, W.10
Wilhelmsen, K.C.11
Hansen, L.12
Morris, J.C.13
Goate, A.M.14
-
20
-
-
0032543684
-
Association of missense and 5-prime-splice-site mutations in tau with the inherited dementia FTDP-17
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
Baker, M.4
Froelich, S.5
Houlden, H.6
Pickering-Brown, S.7
Chakraverty, S.8
Isaacs, A.9
Grover, A.10
Hackett, J.11
Adamson, J.12
Lincoln, S.13
Dickson, D.14
Davies, P.15
Petersen, R.C.16
Stevens, M.17
De Graaff, E.18
Wauters, E.19
Van Baren, J.20
Hillebrand, M.21
Joosse, M.22
Kwon, J.M.23
Nowotny, P.24
Heutink, P.25
more..
-
21
-
-
0032573083
-
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 13103-13107
-
-
Clark, L.N.1
Poorkaj, P.2
Wszolek, Z.3
Geschwind, D.H.4
Nasreddine, Z.S.5
Miller, B.6
Li, D.7
Payami, H.8
Awert, F.9
Markopoulou, K.10
Andreadis, A.11
D'Souza, I.12
Lee, V.M.13
Reed, L.14
Trojanowski, J.Q.15
Zhukareva, V.16
Bird, T.17
Schellenberg, G.18
Wilhelmsen, K.C.19
-
24
-
-
0034605478
-
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
-
(2000)
J Am Med Assoc
, vol.284
, pp. 1664-1669
-
-
Hosler, B.A.1
Siddique, T.2
Sapp, P.C.3
Sailor, W.4
Huang, M.C.5
Hossain, A.6
Daube, J.R.7
Nance, M.8
Fan, C.9
Kaplan, J.10
Hung, W.-Y.11
McKenna-Yasek, D.12
Haines, J.L.13
Pericak-Vance, M.A.14
Horvitz, H.R.15
Brown R.H., Jr.16
-
25
-
-
0034532113
-
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone
-
(2000)
Genet Med
, vol.2
, pp. 232-241
-
-
Kimonis, V.E.1
Kovach, M.J.2
Waggoner, B.3
Leal, S.4
Salam, A.5
Rimer, L.6
Davis, K.7
Khardori, R.8
Gelber, D.9
-
27
-
-
0345516014
-
DNA extraction from formalin fixed, paraffin embedded tissues: Protein digestion as a limiting step for retrieval of high quality DNA
-
(1997)
Diagn Mol Pathol
, vol.6
, pp. 342-346
-
-
Siaz-Cano, S.1
Brady, S.2
-
31
-
-
0029945706
-
Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker sharing statistics
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1323-1337
-
-
Sobel, E.1
Lange, K.2
-
38
-
-
0015443132
-
Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia
-
(1972)
Acta Psychiatr Scand
, vol.232
, Issue.SUPPL.
, pp. 1-73
-
-
Hakola, H.P.A.1
-
39
-
-
0035849495
-
CNS manifestations of Nasu-Hakola disease: A frontal dementia with bone cysts
-
(2001)
Neurology
, vol.56
, pp. 1552-1558
-
-
Paloneva, J.1
Autti, T.2
Raininko, R.3
Partanen, J.4
Salonen, O.5
Puranen, M.6
Hakola, P.7
Haltia, M.8
-
40
-
-
0033945864
-
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
-
(2000)
Nature Genet
, vol.25
, pp. 357-361
-
-
Paloneva, J.1
Kestila, M.2
Wu, J.3
Salminen, A.4
Bohling, T.5
Ruotsalainen, V.6
Hakola, P.7
Bakker, A.B.8
Phillips, J.H.9
Pekkarinen, P.10
Lanier, L.L.11
Timonen, T.12
Peltonen, L.13
-
41
-
-
0013926252
-
Paget's disease and muscular dystrophy: Report of an unusual association in one family
-
(1966)
Scot Med J
, vol.11
, pp. 238-243
-
-
McBride, T.I.1
-
48
-
-
0031728797
-
Sporadic inclusion-body myositis and its similarities to Alzheimer disease brain. Recent approaches to diagnosis and pathogenesis, and relation to aging
-
(1998)
Scand J Rheumatol
, vol.27
, pp. 389-405
-
-
Askanas, V.1
Engel, W.K.2
-
50
-
-
17944366749
-
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
-
(2001)
Nature Genet
, vol.29
, pp. 83-87
-
-
Eisenberg, I.1
Avidan, N.2
Potikha, T.3
Hochner, H.4
Chen, M.5
Olender, T.6
Barash, M.7
Shemesh, M.8
Sadeh, M.9
Grabov-Nardini, G.10
Schmilevich, I.11
Friedmann, A.12
Karpati, G.13
Bradley, W.G.14
Baumbach, L.15
Lancet, D.16
Ben Asher, E.17
Beckmann, J.S.18
Argov, Z.19
Mitrani-Rosenbaum, S.20
more..
-
54
-
-
0029032375
-
Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridization
-
(1995)
Cytogenet Cell Genet
, vol.71
, pp. 94-95
-
-
Hunt, C.C.J.1
Eyre, H.J.2
Akkari, P.A.3
Meredith, C.4
Dorosz, S.M.5
Wilton, S.D.6
Callen, D.F.7
Laing, N.G.8
Baker, E.9
-
56
-
-
0030046840
-
Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13
-
doi:10.1006/geno.1996.0010
-
(1996)
Genomics
, vol.31
, pp. 65-70
-
-
Van Leuven, F.1
Stas, L.2
Hilliker, C.3
Miyake, Y.4
Bilinski, P.5
Gossler, A.6
-
58
-
-
0028884750
-
Chromosome localization of human genes for clathrin adaptor polypeptides AP2-beta and AP50 and the clathrin-binding protein, VCP
-
(1995)
Genomics
, vol.30
, pp. 94-97
-
-
Druck, T.1
Gu, Y.2
Prabhala, G.3
Cannizzaro, L.A.4
Park, S.-H.5
Huebner, K.6
Keen, J.H.7
|