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Results: 1 to 20 of 93

Similar articles for PubMed (Select 20481270)

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.
7.

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
8.

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
9.
10.

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
11.

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
12.

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
13.

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
14.

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.

15.

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P.

Neurology. 2001 Aug 28;57(4):621-5.

PMID:
11524469
16.

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
17.

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
18.

Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.

Goldman JS, Reed B, Gearhart R, Kramer JH, Miller BL.

Int J Geriatr Psychiatry. 2002 Jul;17(7):649-51.

PMID:
12112163
19.

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

Smith MJ, Gardner RJ, Knight MA, Forrest SM, Beyreuther K, Storey E, McLean CA, Cotton RG, Cappal R, Masters CL.

Neuroreport. 1999 Feb 25;10(3):503-7.

PMID:
10208579
20.

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop PH, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN.

Neuroreport. 1997 Apr 14;8(6):1537-42.

PMID:
9172170
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