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Items: 1 to 20 of 95

1.

A novel PS1 gene mutation in a large Aboriginal kindred.

Butler R, Beattie BL, Thong UP, Dwosh E, Guimond C, Feldman HH, Hsiung GY, Rogaeva E, St George-Hyslop P, Sadovnick AD.

Can J Neurol Sci. 2010 May;37(3):359-64.

PMID:
20481270
2.

Genetic counseling for early-onset familial Alzheimer disease in large Aboriginal kindred from a remote community in British Columbia: unique challenges and possible solutions.

Butler R, Dwosh E, Beattie BL, Guimond C, Lombera S, Brief E, Illes J, Sadovnick AD.

J Genet Couns. 2011 Apr;20(2):136-42. doi: 10.1007/s10897-010-9334-9. Epub 2010 Oct 7.

PMID:
20927575
3.

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.

Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappatà S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G.

Neurology. 2010 Mar 9;74(10):798-806. doi: 10.1212/WNL.0b013e3181d52785. Epub 2010 Feb 17.

4.

Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.

Snider BJ, Norton J, Coats MA, Chakraverty S, Hou CE, Jervis R, Lendon CL, Goate AM, McKeel DW Jr, Morris JC.

Arch Neurol. 2005 Dec;62(12):1821-30.

PMID:
16344340
5.

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

Tedde A, Nacmias B, Ciantelli M, Forleo P, Cellini E, Bagnoli S, Piccini C, Caffarra P, Ghidoni E, Paganini M, Bracco L, Sorbi S.

Arch Neurol. 2003 Nov;60(11):1541-4.

PMID:
14623725
6.

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.

Harvey RJ, Ellison D, Hardy J, Hutton M, Roques PK, Collinge J, Fox NC, Rossor MN.

J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):44-9.

7.

Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.

Deng B, Lian Y, Wang X, Zeng F, Jiao B, Wang YR, Liang CR, Liu YH, Bu XL, Yao XQ, Zhu C, Shen L, Zhou HD, Zhang T, Wang YJ.

Neurotox Res. 2014 Oct;26(3):211-5. doi: 10.1007/s12640-014-9462-3. Epub 2014 Apr 16.

PMID:
24737487
8.

Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.

El Kadmiri N, Zaid N, Zaid Y, Tadevosyan A, Hachem A, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.

Neuroscience. 2014 Jun 6;269:215-22. doi: 10.1016/j.neuroscience.2014.03.052. Epub 2014 Apr 4.

PMID:
24704512
9.

A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.

Ezquerra M, Carnero C, Blesa R, Gelpí JL, Ballesta F, Oliva R.

Neurology. 1999 Feb;52(3):566-70.

PMID:
10025789
10.

A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease.

Church A, Prescott J, Lillis S, Rees J, Chance P, Williamson K, Morris HR.

Neurobiol Aging. 2011 Mar;32(3):556.e1-2. doi: 10.1016/j.neurobiolaging.2010.09.030. Epub 2010 Dec 7.

PMID:
21144619
11.

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

Lemere CA, Lopera F, Kosik KS, Lendon CL, Ossa J, Saido TC, Yamaguchi H, Ruiz A, Martinez A, Madrigal L, Hincapie L, Arango JC, Anthony DC, Koo EH, Goate AM, Selkoe DJ, Arango JC.

Nat Med. 1996 Oct;2(10):1146-50.

PMID:
8837617
12.

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

Antonell A, Balasa M, Oliva R, Lladó A, Bosch B, Fabregat N, Fortea J, Molinuevo JL, Sánchez-Valle R.

Neurosci Lett. 2011 May 27;496(1):40-2. doi: 10.1016/j.neulet.2011.03.084. Epub 2011 Apr 9.

PMID:
21501661
13.

Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease.

Kaneko H, Kakita A, Kasuga K, Nozaki H, Ishikawa A, Miyashita A, Kuwano R, Ito G, Iwatsubo T, Takahashi H, Nishizawa M, Onodera O, Sisodia SS, Ikeuchi T.

J Neurosci. 2007 Nov 28;27(48):13092-7.

14.

A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.

Yasuda M, Maeda K, Hashimoto M, Yamashita H, Ikejiri Y, Bird TD, Tanaka C, Schellenberg GD.

Arch Neurol. 1999 Jan;56(1):65-9.

PMID:
9923762
15.

A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

Heilig EA, Xia W, Shen J, Kelleher RJ 3rd.

J Biol Chem. 2010 Jul 16;285(29):22350-9. doi: 10.1074/jbc.M110.116962. Epub 2010 May 11.

16.

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

Lopera F, Ardilla A, Martínez A, Madrigal L, Arango-Viana JC, Lemere CA, Arango-Lasprilla JC, Hincapíe L, Arcos-Burgos M, Ossa JE, Behrens IM, Norton J, Lendon C, Goate AM, Ruiz-Linares A, Rosselli M, Kosik KS.

JAMA. 1997 Mar 12;277(10):793-9.

PMID:
9052708
17.

Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis.

Sepulveda-Falla D, Barrera-Ocampo A, Hagel C, Korwitz A, Vinueza-Veloz MF, Zhou K, Schonewille M, Zhou H, Velazquez-Perez L, Rodriguez-Labrada R, Villegas A, Ferrer I, Lopera F, Langer T, De Zeeuw CI, Glatzel M.

J Clin Invest. 2014 Apr;124(4):1552-67. doi: 10.1172/JCI66407. Epub 2014 Feb 24.

18.

Early-onset familial Alzheimer's disease (EOFAD).

Wu L, Rosa-Neto P, Hsiung GY, Sadovnick AD, Masellis M, Black SE, Jia J, Gauthier S.

Can J Neurol Sci. 2012 Jul;39(4):436-45. Review.

PMID:
22728850
19.

Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life.

Hausner L, Tschäpe JA, Schmitt HP, Hentschel F, Hartmann T, Frölich L.

Alzheimers Dement. 2014 Mar;10(2):e27-39. doi: 10.1016/j.jalz.2013.02.006. Epub 2013 Jul 11.

PMID:
23850332
20.

Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

Pastor P, Roe CM, Villegas A, Bedoya G, Chakraverty S, García G, Tirado V, Norton J, Ríos S, Martínez M, Kosik KS, Lopera F, Goate AM.

Ann Neurol. 2003 Aug;54(2):163-9.

PMID:
12891668

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