First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation

Diego Santos-García; Jelena Pozojevic; Teresa de Deus Fonticoba; Mónica Kurtis; Josep Gamez; Christine Klein; Mariana H.G. Monje; Ana Westenberger

doi:10.1002/mds.28405

First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation

Diego Santos-García^*, Jelena Pozojevic, Teresa de Deus Fonticoba, Mónica Kurtis, Josep Gamez, Christine Klein, Mariana H.G. Monje, Ana Westenberger

^*Korrespondierende/r Autor/-in für diese Arbeit

4 Zitate (Scopus)

Originalsprache	Englisch
Zeitschrift	Movement Disorders
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.28405
Publikationsstatus	Veröffentlicht - 02.2021

Fördermittel

We thank the patient for taking part in this study. A.W. and C. K. are supported by the German Research Foundation (Deutsche Forschungsgemeinschaft) Research Unit FOR2488. D.S‐G. reports employment with SERGAS, advisory board of Sense4care, and honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, and Teva. J.P. reports employment with University Medical Center Schleswig‐Holstein, Campus Lübeck, Germany. T.D.F. has nothing to report. M.K. reports employment with Neurologia Aplicada S.A.; honoraria for educational talks by the MDS, Bial and Eisai; and participation in a Michael J Fox grant. J.G. reports employment with GMA Clinic. C.K. is a medical consultant to CENTOGENE GmbH for genetic testing for movement disorders (except parkinsonism) and dementia; reports employment University Medical Center Schleswig‐Holstein, Campus Lübeck, and University of Lübeck, Germany; reports the Scientific Advisory Board of the Else Kroener Fresenius Foundation; royalties from Oxford University Press; grants from the Movement Disorder Society, Michael J. Fox Foundation (MJFF), BMBF, and the European Commission; and intramural funds from the University of Lübeck. M.H.G.M. reports employment with the Autonomous University of Madrid and HM‐Puerta del Sur University Hospital and honoraria for educational presentations by Novartis. A.W. reports medical writing at CENTOGENE GmbH, employment with University Medical Center Schleswig‐Holstein, Campus Lübeck, Germany; honoraria from CENTOGENE GmbH; and grants from the The German Research Foundation.

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

Dokumente

10.1002/mds.28405

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@article{fc62ba7542db422782b953cc9cc8acbb,

title = "First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation",

author = "Diego Santos-Garc{\'i}a and Jelena Pozojevic and \{de Deus Fonticoba\}, Teresa and M{\'o}nica Kurtis and Josep Gamez and Christine Klein and Monje, \{Mariana H.G.\} and Ana Westenberger",

note = "Funding Information: We thank the patient for taking part in this study. A.W. and C. K. are supported by the German Research Foundation (Deutsche Forschungsgemeinschaft) Research Unit FOR2488. Funding Information: D.S‐G. reports employment with SERGAS, advisory board of Sense4care, and honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, and Teva. J.P. reports employment with University Medical Center Schleswig‐Holstein, Campus L{\"u}beck, Germany. T.D.F. has nothing to report. M.K. reports employment with Neurologia Aplicada S.A.; honoraria for educational talks by the MDS, Bial and Eisai; and participation in a Michael J Fox grant. J.G. reports employment with GMA Clinic. C.K. is a medical consultant to CENTOGENE GmbH for genetic testing for movement disorders (except parkinsonism) and dementia; reports employment University Medical Center Schleswig‐Holstein, Campus L{\"u}beck, and University of L{\"u}beck, Germany; reports the Scientific Advisory Board of the Else Kroener Fresenius Foundation; royalties from Oxford University Press; grants from the Movement Disorder Society, Michael J. Fox Foundation (MJFF), BMBF, and the European Commission; and intramural funds from the University of L{\"u}beck. M.H.G.M. reports employment with the Autonomous University of Madrid and HM‐Puerta del Sur University Hospital and honoraria for educational presentations by Novartis. A.W. reports medical writing at CENTOGENE GmbH, employment with University Medical Center Schleswig‐Holstein, Campus L{\"u}beck, Germany; honoraria from CENTOGENE GmbH; and grants from the The German Research Foundation. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",

year = "2021",

month = feb,

doi = "10.1002/mds.28405",

language = "English",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

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TY - JOUR

T1 - First Case of Parkinsonian-Pyramidal Syndrome Associated with a TBK1 Mutation

AU - Santos-García, Diego

AU - Pozojevic, Jelena

AU - de Deus Fonticoba, Teresa

AU - Kurtis, Mónica

AU - Gamez, Josep

AU - Klein, Christine

AU - Monje, Mariana H.G.

AU - Westenberger, Ana

N1 - Funding Information: We thank the patient for taking part in this study. A.W. and C. K. are supported by the German Research Foundation (Deutsche Forschungsgemeinschaft) Research Unit FOR2488. Funding Information: D.S‐G. reports employment with SERGAS, advisory board of Sense4care, and honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, and Teva. J.P. reports employment with University Medical Center Schleswig‐Holstein, Campus Lübeck, Germany. T.D.F. has nothing to report. M.K. reports employment with Neurologia Aplicada S.A.; honoraria for educational talks by the MDS, Bial and Eisai; and participation in a Michael J Fox grant. J.G. reports employment with GMA Clinic. C.K. is a medical consultant to CENTOGENE GmbH for genetic testing for movement disorders (except parkinsonism) and dementia; reports employment University Medical Center Schleswig‐Holstein, Campus Lübeck, and University of Lübeck, Germany; reports the Scientific Advisory Board of the Else Kroener Fresenius Foundation; royalties from Oxford University Press; grants from the Movement Disorder Society, Michael J. Fox Foundation (MJFF), BMBF, and the European Commission; and intramural funds from the University of Lübeck. M.H.G.M. reports employment with the Autonomous University of Madrid and HM‐Puerta del Sur University Hospital and honoraria for educational presentations by Novartis. A.W. reports medical writing at CENTOGENE GmbH, employment with University Medical Center Schleswig‐Holstein, Campus Lübeck, Germany; honoraria from CENTOGENE GmbH; and grants from the The German Research Foundation. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2021/2

Y1 - 2021/2

UR - https://www.scopus.com/pages/publications/85096664394

U2 - 10.1002/mds.28405

DO - 10.1002/mds.28405

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AN - SCOPUS:85096664394

SN - 0885-3185

JO - Movement Disorders

JF - Movement Disorders

ER -