Search Results - "Gaskell PC"

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12.

Authors: Züchner S Kail ME Nance MA et al.

Source: Neurogenetics [Neurogenetics] 2006 May; Vol. 7 (2), pp. 127-9. Date of Electronic Publication: 2006 Mar 25.

Publication Type: Letter; Research Support, N.I.H., Extramural

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1364-6745 (Print) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus.

Authors: Liang X Schnetz-Boutaud N Kenealy SJ et al.

Source: Molecular psychiatry [Mol Psychiatry] 2006 Mar; Vol. 11 (3), pp. 280-5.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print Cited Medium: Print ISSN: 1359-4184 (Print) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Maternal lineages and Alzheimer disease risk in the Old Order Amish.

Authors: van der Walt JM Scott WK Slifer S et al.

Source: Human genetics [Hum Genet] 2005 Oct; Vol. 118 (1), pp. 115-22. Date of Electronic Publication: 2005 Oct 28.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Authors: Svenson IK Kloos MT Gaskell PC et al.

Source: Neurogenetics [Neurogenetics] 2004 Sep; Vol. 5 (3), pp. 157-64. Date of Electronic Publication: 2004 Jul 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1364-6745 (Print) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Authors: Hauser MA Horrigan SK Salmikangas P et al.

Source: Human molecular genetics [Hum Mol Genet] 2000 Sep 01; Vol. 9 (14), pp. 2141-7.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Lewy body and Alzheimer pathology in a family with the amyloid-beta precursor protein APP717 gene mutation.

Authors: Rosenberg CK Pericak-Vance MA Saunders AM et al.

Source: Acta neuropathologica [Acta Neuropathol] 2000 Aug; Vol. 100 (2), pp. 145-52.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print Cited Medium: Print ISSN: 0001-6322 (Print) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.

Authors: Corder EH Saunders AM Strittmatter WJ et al.

Source: Science (New York, N.Y.) [Science] 1993 Aug 13; Vol. 261 (5123), pp. 921-3.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Print ISSN: 0036-8075 (Print) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Longitudinal follow-up of late-onset Alzheimer disease families.

Authors: Carney RM Slifer MA Lin PI et al.

Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2008 Jul 05; Vol. 147B (5), pp. 571-8.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Authors: Züchner S Wang G Tran-Viet KN et al.

Source: American journal of human genetics [Am J Hum Genet] 2006 Aug; Vol. 79 (2), pp. 365-9. Date of Electronic Publication: 2006 May 26.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

A genome-wide linkage analysis of dementia in the Amish.

Authors: Hahs DW McCauley JL Crunk AE et al.

Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2006 Mar 05; Vol. 141B (2), pp. 160-6.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print Cited Medium: Print ISSN: 1552-4841 (Print) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

An autosomal genomic screen for dementia in an extended Amish family.

Authors: Ashley-Koch AE Shao Y Rimmler JB et al.

Source: Neuroscience letters [Neurosci Lett] 2005 May 13; Vol. 379 (3), pp. 199-204.

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Elsevier Scientific Publishers Ireland Country of Publication: Ireland NLM ID: 7600130 Publication Model: Print Cited Medium: Print ISSN: 0304-3940 (Print) Linking ISSN: 03043940 NLM ISO Abbreviation: Neurosci Lett Subsets: MEDLINE

Alzheimer's disease genes and genetic testing in clinical practice.

Authors: Gaskell PC Jr Vance JM

Source: JAAPA : official journal of the American Academy of Physician Assistants [JAAPA] 2004 Mar; Vol. 17 (3), pp. 25-6, 29-30, 32.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wolters Kluwer Country of Publication: United States NLM ID: 9513102 Publication Model: Print Cited Medium: Print ISSN: 1547-1896 (Print) Linking ISSN: 08937400 NLM ISO Abbreviation: JAAPA

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Authors: Reid E Kloos M Ashley-Koch A et al.

Source: American journal of human genetics [Am J Hum Genet] 2002 Nov; Vol. 71 (5), pp. 1189-94. Date of Electronic Publication: 2002 Sep 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

Authors: Speer MC Graham FL Bonner E et al.

Source: Neurogenetics [Neurogenetics] 2002 Oct; Vol. 4 (2), pp. 83-5.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print Cited Medium: Print ISSN: 1364-6745 (Print) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Age at onset in two common neurodegenerative diseases is genetically controlled.

Authors: Li YJ Scott WK Hedges DJ et al.

Source: American journal of human genetics [Am J Hum Genet] 2002 Apr; Vol. 70 (4), pp. 985-93. Date of Electronic Publication: 2002 Mar 01.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Authors: Svenson IK Ashley-Koch AE Gaskell PC et al.

Source: American journal of human genetics [Am J Hum Genet] 2001 May; Vol. 68 (5), pp. 1077-85. Date of Electronic Publication: 2001 Apr 16.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Authors: Ashley-Koch A Bonner ER Gaskell PC et al.

Source: Neurogenetics [Neurogenetics] 2001 Mar; Vol. 3 (2), pp. 91-7.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print Cited Medium: Print ISSN: 1364-6745 (Print) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684.

Authors: Hulette CM Pericak-Vance MA Roses AD et al.

Source: Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 1999 Aug; Vol. 58 (8), pp. 859-66.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 2985192R Publication Model: Print Cited Medium: Print ISSN: 0022-3069 (Print) Linking ISSN: 00223069 NLM ISO Abbreviation: J Neuropathol Exp Neurol Subsets: MEDLINE

No association of alpha1-antichymotrypsin flanking region polymorphism and Alzheimer disease risk in early- and late-onset Alzheimer disease patients.

Authors: Bass MP Yamaoka LH Scott WK et al.

Source: Neuroscience letters [Neurosci Lett] 1998 Jul 03; Vol. 250 (2), pp. 79-82.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Elsevier Scientific Publishers Ireland Country of Publication: Ireland NLM ID: 7600130 Publication Model: Print Cited Medium: Print ISSN: 0304-3940 (Print) Linking ISSN: 03043940 NLM ISO Abbreviation: Neurosci Lett Subsets: MEDLINE

Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.

Authors: Speer MC Gilchrist JM Stajich JM et al.

Source: Journal of medical genetics [J Med Genet] 1998 Apr; Vol. 35 (4), pp. 305-8.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Print ISSN: 0022-2593 (Print) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE