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Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.

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Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. / Hiller, Anja; Hagenah, Johann M; Djarmati, Ana; Hedrich, Katja; Reetz, Kathrin; Schneider-Gold, Christiane; Kress, Wolfgang; Münchau, Alexander; Klein, Christine.

in: MOVEMENT DISORD, Jahrgang 22, Nr. 1, 1, 2007, S. 145-147.

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

Harvard

Hiller, A, Hagenah, JM, Djarmati, A, Hedrich, K, Reetz, K, Schneider-Gold, C, Kress, W, Münchau, A & Klein, C 2007, 'Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.', MOVEMENT DISORD, Jg. 22, Nr. 1, 1, S. 145-147. <http://www.ncbi.nlm.nih.gov/pubmed/17013904?dopt=Citation>

APA

Hiller, A., Hagenah, J. M., Djarmati, A., Hedrich, K., Reetz, K., Schneider-Gold, C., Kress, W., Münchau, A., & Klein, C. (2007). Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. MOVEMENT DISORD, 22(1), 145-147. [1]. http://www.ncbi.nlm.nih.gov/pubmed/17013904?dopt=Citation

Vancouver

Hiller A, Hagenah JM, Djarmati A, Hedrich K, Reetz K, Schneider-Gold C et al. Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. MOVEMENT DISORD. 2007;22(1):145-147. 1.

Bibtex

@article{855e1a6fb5024ff78737ea0f342b0949,
title = "Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.",
abstract = "The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.",
author = "Anja Hiller and Hagenah, {Johann M} and Ana Djarmati and Katja Hedrich and Kathrin Reetz and Christiane Schneider-Gold and Wolfgang Kress and Alexander M{\"u}nchau and Christine Klein",
year = "2007",
language = "English",
volume = "22",
pages = "145--147",
journal = "MOVEMENT DISORD",
issn = "0885-3185",
publisher = "John Wiley and Sons Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.

AU - Hiller, Anja

AU - Hagenah, Johann M

AU - Djarmati, Ana

AU - Hedrich, Katja

AU - Reetz, Kathrin

AU - Schneider-Gold, Christiane

AU - Kress, Wolfgang

AU - Münchau, Alexander

AU - Klein, Christine

PY - 2007

Y1 - 2007

N2 - The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.

AB - The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.

M3 - SCORING: Journal article

VL - 22

SP - 145

EP - 147

JO - MOVEMENT DISORD

JF - MOVEMENT DISORD

SN - 0885-3185

IS - 1

M1 - 1

ER -