Literature DB >> 28379295

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

Andreas Puschmann1,2, Fabienne C Fiesel3, Thomas R Caulfield3, Roman Hudec3, Maya Ando3, Dominika Truban3, Xu Hou3, Kotaro Ogaki3, Michael G Heckman4, Elle D James3, Maria Swanberg5, Itzia Jimenez-Ferrer5, Oskar Hansson6,7, Grzegorz Opala8, Joanna Siuda8, Magdalena Boczarska-Jedynak8, Andrzej Friedman9, Dariusz Koziorowski9, Monika Rudzinska-Bar8, Jan O Aasly10, Timothy Lynch11, George D Mellick12, Megha Mohan12, Peter A Silburn12,13, Yanosh Sanotsky14, Carles Vilariño-Güell3,15, Matthew J Farrer3,15, Li Chen16,17,18, Valina L Dawson16,17,18,19,20, Ted M Dawson16,17,18,19,21, Zbigniew K Wszolek22, Owen A Ross3,23,24, Wolfdieter Springer3,24.   

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Year:  2017        PMID： 28379295      PMCID： PMC6248563          DOI： 10.1093/brain/awx077

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  10 in total

1.  Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

Authors:  Fabienne C Fiesel; Thomas R Caulfield; Elisabeth L Moussaud-Lamodière; Kotaro Ogaki; Daniel F A R Dourado; Samuel C Flores; Owen A Ross; Wolfdieter Springer
Journal:  Hum Mutat       Date:  2015-06-03       Impact factor: 4.878

2.  Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

Authors:  Ziv Gan-Or; Jennifer A Ruskey; Dan Spiegelman; Isabelle Arnulf; Yves Dauvilliers; Birgit Högl; Christelle Monaca-Charley; Ronald B Postuma; Jacques Y Montplaisir; Guy A Rouleau
Journal:  Brain       Date:  2017-06-01       Impact factor: 13.501

3.  Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium.

Authors:  Karen Marder; Yuanjia Wang; Roy N Alcalay; Helen Mejia-Santana; Ming-Xin Tang; Annie Lee; Deborah Raymond; Anat Mirelman; Rachel Saunders-Pullman; Lorraine Clark; Laurie Ozelius; Avi Orr-Urtreger; Nir Giladi; Susan Bressman
Journal:  Neurology       Date:  2015-06-10       Impact factor: 9.910

4.  Absence of Lewy pathology associated with PINK1 homozygous mutation.

Authors:  Masashi Takanashi; Yuanzhe Li; Nobutaka Hattori
Journal:  Neurology       Date:  2016-05-04       Impact factor: 9.910

5.  Delayed emergence of a parkinsonian disorder or dementia in 81% of older men initially diagnosed with idiopathic rapid eye movement sleep behavior disorder: a 16-year update on a previously reported series.

Authors:  Carlos H Schenck; Bradley F Boeve; Mark W Mahowald
Journal:  Sleep Med       Date:  2013-01-22       Impact factor: 3.492

6.  Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

Authors:  Dorota Hoffman-Zacharska; Dariusz Koziorowski; Owen A Ross; Micha Milewski; Jaros Aw Poznanski; Marta Jurek; Zbigniew K Wszolek; Alexandra Soto-Ortolaza; Jaros Aw S Awek; Piotr Janik; Zygmunt Jamrozik; Anna Potulska-Chromik; Barbara Jasinska-Myga; Grzegorz Opala; Anna Krygowska-Wajs; Krzysztof Czyzewski; Dennis W Dickson; Jerzy Bal; Andrzej Friedman
Journal:  Parkinsonism Relat Disord       Date:  2013-08-02       Impact factor: 4.891

Review 7.  PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?

Authors:  Dominika Truban; Xu Hou; Thomas R Caulfield; Fabienne C Fiesel; Wolfdieter Springer
Journal:  J Parkinsons Dis       Date:  2017       Impact factor: 5.568

8.  Neurodegenerative disorder risk in idiopathic REM sleep behavior disorder: study in 174 patients.

Authors:  Alex Iranzo; Ana Fernández-Arcos; Eduard Tolosa; Mónica Serradell; José Luis Molinuevo; Francesc Valldeoriola; Ellen Gelpi; Isabel Vilaseca; Raquel Sánchez-Valle; Albert Lladó; Carles Gaig; Joan Santamaría
Journal:  PLoS One       Date:  2014-02-26       Impact factor: 3.240

9.  Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.

Authors:  Caroline Ran; Lovisa Brodin; Lars Forsgren; Marie Westerlund; Mehrafarin Ramezani; Sandra Gellhaar; Fengqing Xiang; Camilla Fardell; Hans Nissbrandt; Peter Söderkvist; Andreas Puschmann; Emil Ygland; Lars Olson; Thomas Willows; Anders Johansson; Olof Sydow; Karin Wirdefeldt; Dagmar Galter; Per Svenningsson; Andrea Carmine Belin
Journal:  Neurobiol Aging       Date:  2016-05-03       Impact factor: 4.673

10.  Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Authors:  Andreas Puschmann; Fabienne C Fiesel; Thomas R Caulfield; Roman Hudec; Maya Ando; Dominika Truban; Xu Hou; Kotaro Ogaki; Michael G Heckman; Elle D James; Maria Swanberg; Itzia Jimenez-Ferrer; Oskar Hansson; Grzegorz Opala; Joanna Siuda; Magdalena Boczarska-Jedynak; Andrzej Friedman; Dariusz Koziorowski; Monika Rudzińska-Bar; Jan O Aasly; Timothy Lynch; George D Mellick; Megha Mohan; Peter A Silburn; Yanosh Sanotsky; Carles Vilariño-Güell; Matthew J Farrer; Li Chen; Valina L Dawson; Ted M Dawson; Zbigniew K Wszolek; Owen A Ross; Wolfdieter Springer
Journal:  Brain       Date:  2016-11-02       Impact factor: 15.255
  10 in total
  1 in total

Review 1.  New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Authors:  Andreas Puschmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-09       Impact factor: 5.081
  1 in total

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