Perry B Shieh

Perry B Shieh

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Perry B Shieh

Perry B Shieh

Publications by authors named "Perry B Shieh"

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32Publications

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Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4.

Neurology 2019 Mar 1;92(13):e1405-e1415. Epub 2019 Mar 1.

From the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000007185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453767PMC
March 2019

Hearing and Vision Loss in an Older Man.

JAMA Neurol 2018 11;75(11):1439-1440

Department of Neurology, University of California, Los Angeles.

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http://dx.doi.org/10.1001/jamaneurol.2018.1868DOI Listing
November 2018

Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy.

Authors:
Perry B Shieh

Neurotherapeutics 2018 10;15(4):840-848

Department of Neurology, University of California, Los Angeles, 300 Medical Plaza, Suite B-200, Los Angeles, CA, 90095, USA.

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http://link.springer.com/10.1007/s13311-018-00687-z
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http://dx.doi.org/10.1007/s13311-018-00687-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277306PMC
October 2018

Congenital Myasthenic Syndromes.

Neurol Clin 2018 05;36(2):367-378

Department of Neurology, University of Alabama at Birmingham, 619 19th Street South, Birmingham, AL 35233, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S07338619183000
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http://dx.doi.org/10.1016/j.ncl.2018.01.007DOI Listing
May 2018

Review of the Diagnosis and Treatment of Periodic Paralysis.

Muscle Nerve 2018 04 29;57(4):522-530. Epub 2017 Nov 29.

Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.

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http://dx.doi.org/10.1002/mus.26009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867231PMC
April 2018

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

N Engl J Med 2018 02;378(7):625-635

From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).

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http://dx.doi.org/10.1056/NEJMoa1710504DOI Listing
February 2018

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

Reverse fiber type disproportion: A distinct metabolic myopathy.

Muscle Nerve 2016 06 15;54(1):86-93. Epub 2016 Mar 15.

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

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http://doi.wiley.com/10.1002/mus.24984
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http://dx.doi.org/10.1002/mus.24984DOI Listing
June 2016

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Authors:
Ted M Burns Gordon A Smith Jeffrey A Allen Anthony A Amato W David Arnold Richard Barohn Michael Benatar Shawn J Bird Mark Bromberg Nizar Chahin Emma Ciafaloni Jeffrey A Cohen Andrea Corse Brian A Crum William S David Elliot Dimberg Eduardo A De Sousa Peter D Donofrio P James B Dyck Andrew G Engel Erik R Ensrud Mark Ferrante Miriam Freimer Karissa L Gable Summer Gibson James M Gilchrist Jonathan M Goldstein Clifton L Gooch Brent P Goodman Dmitri Gorelov Sidney M Gospe Namita A Goyal Amanda C Guidon Jeffrey T Guptill Laurie Gutmann Ludwig Gutmann Kelly Gwathmey Yadollah Harati C Michel Harper Michael K Hehir Lisa D Hobson-Webb James F Howard Carlayne E Jackson Nicholas Johnson Sarah M Jones Vern C Juel Henry J Kaminski Chafic Karam Kathleen D Kennelly Sami Khella Julie Khoury John C Kincaid John T Kissel Noah Kolb David Lacomis Shafeeq Ladha Daniel Larriviere Richard A Lewis Yuebing Li William J Litchy Eric Logigian Jau-Shin Lou Daniel J L MacGowen Ricardo Maselli Janice M Massey Michelle L Mauermann Katherine D Mathews Matthew N Meriggioli Robert G Miller Joon-Shik Moon Tahseen Mozaffar Sharon P Nations Richard J Nowak Lyle W Ostrow Robert M Pascuzzi Amanda Peltier Katherine Ruzhansky David P Richman Mark A Ross Devon I Rubin James A Russell George M Sachs Mohammad Kian Salajegheh David S Saperstein Stephen Scelsa Duygu Selcen Aziz Shaibani Perry B Shieh Nicholas J Silvestri J Rob Singleton Benn E Smith Yuen T So Guillermo Solorzano Eric J Sorenson Jayashri Srinivasen Jinny Tavee Rabi Tawil Pariwat Thaisetthawatkul Charles Thornton Jaya Trivedi Steven Vernino Annabel K Wang Tyler A Webb Michael D Weiss Anthony J Windebank Gil I Wolfe

Muscle Nerve 2016 Feb 21;53(2):165-8. Epub 2015 Dec 21.

Department of Neurology, University of Buffalo, Buffalo, New York, USA.

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http://dx.doi.org/10.1002/mus.25009DOI Listing
February 2016

Duchenne muscular dystrophy: clinical trials and emerging tribulations.

Authors:
Perry B Shieh

Curr Opin Neurol 2015 Oct;28(5):542-6

Department of Neurology, University of California, Los Angeles, California, USA.

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http://dx.doi.org/10.1097/WCO.0000000000000243DOI Listing
October 2015

Metabolic Myopathies.

Semin Neurol 2015 Aug 6;35(4):385-97. Epub 2015 Oct 6.

Department of Neurology, University of California, Los Angeles, California.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1558973
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http://dx.doi.org/10.1055/s-0035-1558973DOI Listing
August 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378665PMC
April 2015

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

Muscular dystrophies and other genetic myopathies.

Authors:
Perry B Shieh

Neurol Clin 2013 Nov;31(4):1009-29

Department of Neurology, UCLA Medical Center, 300 Medical Plaza, Suite B-200, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ncl.2013.04.004DOI Listing
November 2013

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology 2013 Oct 23;81(14):1205-14. Epub 2013 Aug 23.

From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research (O.C.-B., P.B.A., K.S.-A., E.T.D., L.C.S., K.M., A.H.B.), and Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Physiology and Sarver Molecular Cardiovascular Research Program (C.H., H.G.), University of Arizona, Tucson; Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry (R.S., W.G.F.), Brown University, Providence, RI; Department of Translational Medicine (N.V., J.L.), IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Departments of Pediatrics and Neurology and Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (P.B.S.), University of California, Los Angeles; Division of Human Genetics (N.S.), Department of Pediatrics, Rhode Island Hospital, Providence; Department of Pediatrics, Division of Pediatric Pathology (J.M.D.), and Department of Pathology and Laboratory Medicine (M.W.L), Medical College of Wisconsin, Milwaukee; Hasbro Children's Hospital (J.M.D.), and Center for Biomedical Engineering (W.G.F.), Brown University, Providence, RI.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6ca62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795603PMC
October 2013

Limb-girdle muscular dystrophy 2H and the role of TRIM32.

Handb Clin Neurol 2011 ;101:125-33

Department of Neurology, UCLA, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/B978-0-08-045031-5.00009-8DOI Listing
July 2011

Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy.

Dev Dyn 2008 Feb;237(2):403-10

Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095-1760, USA.

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http://dx.doi.org/10.1002/dvdy.21428DOI Listing
February 2008

Cerebellar transcranial magnetic stimulation impairs verbal working memory.

Ann Neurol 2005 Oct;58(4):553-60

Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/ana.20604DOI Listing
October 2005