Tanya M Bardakjian

Tanya M Bardakjian

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Tanya M Bardakjian

Tanya M Bardakjian

Publications by authors named "Tanya M Bardakjian"

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18Publications

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Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center.

J Huntingtons Dis 2019 Jul 27. Epub 2019 Jul 27.

Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.3233/JHD-190355DOI Listing
July 2019

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

Neurology 2019 Jun 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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http://dx.doi.org/10.1212/WNL.0000000000007614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556091PMC
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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http://dx.doi.org/10.3233/JHD-180328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398921PMC
January 2019

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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http://dx.doi.org/10.7916/D8J11FRZDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876472PMC
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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http://dx.doi.org/10.1007/s10048-018-0544-xDOI Listing
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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http://dx.doi.org/10.1212/WNL.0000000000003320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109952PMC
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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http://dx.doi.org/10.1016/j.ajo.2013.06.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167417PMC
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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http://dx.doi.org/10.1097/ICU.0b013e328349b004DOI Listing
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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http://dx.doi.org/10.1097/GIM.0b013e318204cfd2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237064PMC
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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http://dx.doi.org/10.1002/ajmg.a.33492DOI Listing
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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http://dx.doi.org/10.1186/1471-2350-10-137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806267PMC
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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http://dx.doi.org/10.1002/ajmg.a.30442DOI Listing
January 2005