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Margaret A. Pericak-Vance

Veröffentlichungen von Margaret A. Pericak-Vance zu Pericak-Vance, Margaret ->
weitere Veröffentlichungen von Margaret A. Pericak-Vance:
Marcy Carlson Speer 1959–2007 (2007)
The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African–American family (1994)
Fine localization of the CMT4A locus using a PAC contig and haplotype analysis (1998)
No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease (1998)
No association between the HLA-A2 allele and Alzheimer disease (1999)
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 (1994)
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease (2005)
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment (1985)
Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q (1992)
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 (2002)
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers (1998)
Interleukin 7 receptor α chain (IL7R) shows allelic and functional association with multiple sclerosis (2007)
Linkage analysis of candidate myelin genes in familial multiple sclerosis (1999)
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (2004)
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC (2006)
Veröffentlichungen zu Pericak-Vance, Margaret
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1
Pericak-Vance, Margaret A Marcy Carlson Speer 1959–2007
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 39, No. 10 (2007), p. 1177-1177
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2007
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2
Burke, James R., Wingfield, Martha S., ... The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African–American family
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 7, No. 4 (1994), p. 521-524
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1994
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3
Ben Othmane, Kamel, Rochelle, Julie M., ... Fine localization of the CMT4A locus using a PAC contig and haplotype analysis
in: Neurogenetics , ISSN 1364-6753, Vol. 2 (1. 1998), p. 18-23
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1998
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4
Monaco, Anthony P., Bertelson, Corlee J., ... Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 316, No. 6031 (1985), p. 842-845
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1985
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5
Ben Othmane, Kamel, Ben Hamida, Mongi, ... Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 2, No. 4 (1992), p. 315-317
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1992
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6
Hentati, Afif, Bejaoui, Khemissa, ... Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 7, No. 3 (1994), p. 425-428
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1994
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7
Barcellos, Lisa F., Caillier, Stacy, ... PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 29, No. 1 (2001), p. 23-24
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2001
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8
Baxter, Rachel V., Ben Othmane, Kamel, ... Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 30, No. 1 (2002), p. 21-22
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2002
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9
Züchner, Stephan, Noureddine, Maher, ... Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 37, No. 3 (2005), p. 289-294
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2005
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10
Hentati, Afif, Ouahchi, Karim, ... Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
in: Neurogenetics , ISSN 1364-6753, Vol. 2 (1. 1998), p. 55-60
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1998
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11
Scott, William K., Yamaoka, Larry H., ... No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease
in: Neurogenetics , ISSN 1364-6753, Vol. 1 (3. 1998), p. 179-183
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1998
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12
Small, Gary W., Scott, William K., ... No association between the HLA-A2 allele and Alzheimer disease
in: Neurogenetics , ISSN 1364-6753, Vol. 2 (3. 1999), p. 177-182
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1999
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13
Goate, Alison, Chartier-Harlin, Marie-Christine, ... Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 349, No. 6311 (1991), p. 704-706
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1991
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14
Yang, Yi, Hentati, Afif, ... The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 29, No. 2 (2001), p. 160-165
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2001
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15
Rampoldi, Luca, Dobson-Stone, Carol, ... A conserved sorting-associated protein is mutant in chorea-acanthocytosis
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 28, No. 2 (2001), p. 119-120
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2001
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16
Züchner, Stephan, Mersiyanova, Irina V, ... Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 36, No. 5 (2004), p. 449-451
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2004
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17
Gregory, Simon G, Schmidt, Silke, ... Interleukin 7 receptor α chain (IL7R) shows allelic and functional association with multiple sclerosis
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 39, No. 9 (2007), p. 1083-1091
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2007
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18
Seboun, Eric, Oksenberg, Jorge R., ... Linkage analysis of candidate myelin genes in familial multiple sclerosis
in: Neurogenetics , ISSN 1364-6753, Vol. 2 (3. 1999), p. 155-162
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1999
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19
de Bakker, Paul I W, McVean, Gil, ... A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 10 (2006), p. 1166-1172
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2006
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20
Rosen, Daniel R., Siddique, Teepu, ... Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 362, No. 6415 (1993), p. 59-62
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1993