Publications by authors named "Tanya M Bardakjian"

23Publications

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

PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.

Ann Neurol 2021 Jan 5;89(1):194-195. Epub 2020 Nov 5.

Department of Neurology, Parkinson's Disease and Movement Disorders Center, University of Pennsylvania, Philadelphia, PA, USA.

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January 2021

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia.

Case Rep Neurol Med 2020 29;2020:7219514. Epub 2020 Aug 29.

Department of Neurology, The University of Pennsylvania, Philadelphia, USA.

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August 2020

Peripheral synucleinopathy in a patient with Parkinson disease, cataracts, and hearing loss.

Neurology 2019 06 26;92(23):1113-1115. Epub 2019 Apr 26.

From the National Institute of Neurological Disorders and Stroke (D.P.N., R.I., D.N., A.S., A.K., D.E., D.S.G.), NIH, Bethesda, MD; Department of Neurology (D.P.N., T.M.B., P.G.-A.), University of Pennsylvania; Department of Neurology (T.-W.L.), Thomas Jefferson University Hospital; ad The Children's Hospital of Philadelphia (P.G.-A.), PA.

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June 2019

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease.

J Huntingtons Dis 2019 ;8(1):79-85

Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.

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March 2020

Hereditary Myoclonus Dystonia: A Novel Variant and Phenotype Including Intellectual Disability.

Tremor Other Hyperkinet Mov (N Y) 2018 28;8:547. Epub 2018 Mar 28.

Department of Neurology, Pennsylvania Hospital, Philadelphia, PA, USA.

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November 2018

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Neurogenetics 2018 05 28;19(2):105-110. Epub 2018 Mar 28.

Department of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.

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May 2018

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

Neurology 2016 11;87(19):e227-e230

From the Department of Neurology (C.Q., T.M.B.), University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA; Department of Pathology (S.A.M.), The University of Iowa, Carver College of Medicine, Iowa City, IA; and Department of Neurology (C.K.), Oregon Health and Science University, Portland, OR.

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November 2016

Systemic diagnostic testing in patients with apparently isolated uveal coloboma.

Am J Ophthalmol 2013 Dec 5;156(6):1159-1168.e4. Epub 2013 Sep 5.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

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December 2013

The genetics of anophthalmia and microphthalmia.

Curr Opin Ophthalmol 2011 Sep;22(5):309-13

Albert Einstein Medical Center, Division of Genetics, Philadelphia, Pennsylvania 19141, USA.

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September 2011

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Genet Med 2011 May;13(5):437-42

UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA.

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May 2011

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Am J Med Genet A 2010 Dec;152A(12):3120-3

Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA.

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December 2010

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

BMC Med Genet 2009 Dec 16;10:137. Epub 2009 Dec 16.

Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA.

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December 2009

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

Am J Med Genet A 2005 Jan;132A(1):54-6

Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA.

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January 2005