Publications by authors named "Laurie J Ozelius"

105Publications

Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations.

J Biol Chem 2020 Nov 22;296:100019. Epub 2020 Nov 22.

Laboratory of Membrane Biology, Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. Electronic address:

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November 2020

Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.

Neurobiol Dis 2021 Jan 11;148:105223. Epub 2020 Dec 11.

Department of Otolaryngology - Head & Neck Surgery, Massachusetts Eye and Ear, Boston, MA, USA; Department of Otolaryngology - Head & Neck Surgery, Harvard Medical School, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. Electronic address:

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January 2021

Isolated dystonia: clinical and genetic updates.

J Neural Transm (Vienna) 2020 Nov 27. Epub 2020 Nov 27.

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

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November 2020

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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November 2020

DYT-TUBB4A (DYT4 dystonia): New clinical and genetic observations.

Neurology 2020 Sep 17. Epub 2020 Sep 17.

: The Edmond J Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital & University of Toronto, Toronto, Canada.

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September 2020

Benign SLC39A14 Course of Dystonia-Parkinsonism Secondary to Inherited Manganese Accumulation.

Mov Disord Clin Pract 2020 Jul 7;7(5):569-570. Epub 2020 May 7.

Department of Neurology Hadassah Medical Center and the Hebrew University Jerusalem Israel.

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July 2020

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function.

Mol Ther Nucleic Acids 2020 Sep 15;21:1-12. Epub 2020 May 15.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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September 2020

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities.

J Mov Disord 2019 May 30;12(2):132-134. Epub 2019 May 30.

Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

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May 2019

X-Linked Dystonia-Parkinsonism: recent advances.

Curr Opin Neurol 2019 08;32(4):604-609

The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts, USA.

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August 2019

Genotype-structure-phenotype relationships diverge in paralogs , , and .

Neurol Genet 2019 Feb 4;5(1):e303. Epub 2019 Feb 4.

Department of Neurosurgery (K.J. Sweadner, E.A., J.T.P.), Center for Human Genetics Research (K.J. Swoboda), and Department of Neurology, (K.J. Swoboda, L.J.O.) Massachusetts General Hospital, Boston; and the Department of Neurology (A.B.), Wake Forest School of Medicine, Winston-Salem, NC.

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February 2019