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Novel mutations and repeated findings of mutations in familial Alzheimer disease.

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Novel mutations and repeated findings of mutations in familial Alzheimer disease. / Finckh, Ulrich; Kuschel, Christian; Anagnostouli, Maria; Patsouris, Efstratios; Pantes, George V; Gatzonis, Stylianos; Kapaki, Elisabeth; Davaki, Panagiota; Lamszus, Katrin; Stavrou, Dimitrios; Gal, Andreas.

in: NEUROGENETICS, Jahrgang 6, Nr. 2, 2, 2005, S. 85-89.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Finckh, U, Kuschel, C, Anagnostouli, M, Patsouris, E, Pantes, GV, Gatzonis, S, Kapaki, E, Davaki, P, Lamszus, K, Stavrou, D & Gal, A 2005, 'Novel mutations and repeated findings of mutations in familial Alzheimer disease.', NEUROGENETICS, Jg. 6, Nr. 2, 2, S. 85-89. <http://www.ncbi.nlm.nih.gov/pubmed/15776278?dopt=Citation>

APA

Finckh, U., Kuschel, C., Anagnostouli, M., Patsouris, E., Pantes, G. V., Gatzonis, S., Kapaki, E., Davaki, P., Lamszus, K., Stavrou, D., & Gal, A. (2005). Novel mutations and repeated findings of mutations in familial Alzheimer disease. NEUROGENETICS, 6(2), 85-89. [2]. http://www.ncbi.nlm.nih.gov/pubmed/15776278?dopt=Citation

Vancouver

Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S et al. Novel mutations and repeated findings of mutations in familial Alzheimer disease. NEUROGENETICS. 2005;6(2):85-89. 2.

Bibtex

@article{a1382f5e43e04326b6713e43ad27ca06,
title = "Novel mutations and repeated findings of mutations in familial Alzheimer disease.",
abstract = "Twenty-one unrelated patients with a history of suspected familial Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and APP, the known FAD genes encoding the presenilins (PS1 and PS2) and the amyloid precursor protein (APP). The mutation detection rate was 57%. Of the nine pathogenic mutations found in 12 cases, three were in APP, one in PSEN2, and five in PSEN1, including two novel Greek mutations (L113Q and N135S). Whereas our findings suggest the possibility of single founders for the majority of mutations, we found evidence of recurrence of the APP mutations V717L and V717I.",
author = "Ulrich Finckh and Christian Kuschel and Maria Anagnostouli and Efstratios Patsouris and Pantes, {George V} and Stylianos Gatzonis and Elisabeth Kapaki and Panagiota Davaki and Katrin Lamszus and Dimitrios Stavrou and Andreas Gal",
year = "2005",
language = "Deutsch",
volume = "6",
pages = "85--89",
journal = "NEUROGENETICS",
issn = "1364-6745",
publisher = "Springer",
number = "2",

}

RIS

TY - JOUR

T1 - Novel mutations and repeated findings of mutations in familial Alzheimer disease.

AU - Finckh, Ulrich

AU - Kuschel, Christian

AU - Anagnostouli, Maria

AU - Patsouris, Efstratios

AU - Pantes, George V

AU - Gatzonis, Stylianos

AU - Kapaki, Elisabeth

AU - Davaki, Panagiota

AU - Lamszus, Katrin

AU - Stavrou, Dimitrios

AU - Gal, Andreas

PY - 2005

Y1 - 2005

N2 - Twenty-one unrelated patients with a history of suspected familial Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and APP, the known FAD genes encoding the presenilins (PS1 and PS2) and the amyloid precursor protein (APP). The mutation detection rate was 57%. Of the nine pathogenic mutations found in 12 cases, three were in APP, one in PSEN2, and five in PSEN1, including two novel Greek mutations (L113Q and N135S). Whereas our findings suggest the possibility of single founders for the majority of mutations, we found evidence of recurrence of the APP mutations V717L and V717I.

AB - Twenty-one unrelated patients with a history of suspected familial Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and APP, the known FAD genes encoding the presenilins (PS1 and PS2) and the amyloid precursor protein (APP). The mutation detection rate was 57%. Of the nine pathogenic mutations found in 12 cases, three were in APP, one in PSEN2, and five in PSEN1, including two novel Greek mutations (L113Q and N135S). Whereas our findings suggest the possibility of single founders for the majority of mutations, we found evidence of recurrence of the APP mutations V717L and V717I.

M3 - SCORING: Zeitschriftenaufsatz

VL - 6

SP - 85

EP - 89

JO - NEUROGENETICS

JF - NEUROGENETICS

SN - 1364-6745

IS - 2

M1 - 2

ER -