Peter B Kang

Peter B Kang

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Peter B Kang

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Intravenous Immunoglobulin as a Therapeutic Option for Encephalitis.

J Child Neurol 2019 Oct 11;34(11):687-691. Epub 2019 Jun 11.

2 Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

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http://dx.doi.org/10.1177/0883073819854854DOI Listing
October 2019

Neurodevelopmental outcomes at 9-14 months gestational age after treatment of neonatal seizures due to brain injury.

Childs Nerv Syst 2019 Sep 5;35(9):1571-1578. Epub 2019 Jul 5.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, 1600 SW Archer Rd, Gainesville, FL, 32610, USA.

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http://dx.doi.org/10.1007/s00381-019-04286-xDOI Listing
September 2019

The End of the Beginning: The Journey to Molecular Therapies for Spinal Muscular Atrophy.

Pediatr Neurol 2019 Aug 6. Epub 2019 Aug 6.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida; Department of Neurology, University of Florida College of Medicine, Gainesville, Florida; Genetics Institute and Myology Institute, University of Florida, Gainesville, Florida. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.07.018DOI Listing
August 2019

AAV9- Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.

Mol Ther Methods Clin Dev 2019 Jun 25;13:167-179. Epub 2019 Jan 25.

Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.

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http://dx.doi.org/10.1016/j.omtm.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369239PMC
June 2019

The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila.

FEBS Lett 2019 Apr 12;593(7):680-696. Epub 2019 Mar 12.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

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http://dx.doi.org/10.1002/1873-3468.13348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504253PMC
April 2019

Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II.

Clin Imaging 2019 Jan - Feb;53:134-137. Epub 2018 Oct 5.

Department of Radiology, University of Florida College of Medicine, 1600 SW Archer Road, Gainesville, FL 32610, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08997071183025
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http://dx.doi.org/10.1016/j.clinimag.2018.09.017DOI Listing
March 2019

Dollars and antisense for Duchenne muscular dystrophy: Eteplirsen and dystrophin.

Neurology 2018 06 11;90(24):1091-1092. Epub 2018 May 11.

From the Department of Neurology (C.D.Z.), University of Pennsylvania, Philadelphia; Division of Pediatric Neurology (P.B.K.), Department of Pediatrics, and Departments of Neurology (P.B.K.), and Molecular Genetics and Microbiology (P.B.K.), University of Florida College of Medicine; and Genetics Institute and Myology Institute (P.B.K.), University of Florida, Gainesville.

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http://dx.doi.org/10.1212/WNL.0000000000005669DOI Listing
June 2018

Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence.

Pediatr Neurol 2018 04 31;81:14-18. Epub 2018 Jan 31.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida; Department of Neurology, University of Florida College of Medicine, Gainesville, Florida. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.01.003DOI Listing
April 2018

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

Hum Mol Genet 2017 08;26(15):2984-3000

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.

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https://academic.oup.com/hmg/article/26/15/2984/3819203
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http://dx.doi.org/10.1093/hmg/ddx189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075367PMC
August 2017

The role of thymectomy in the treatment of juvenile myasthenia gravis: a systematic review.

Pediatr Surg Int 2017 Jun 11;33(6):683-694. Epub 2017 Apr 11.

Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1007/s00383-017-4086-3DOI Listing
June 2017

Electrophysiologic features of fibular neuropathy in childhood and adolescence.

Muscle Nerve 2017 05 24;55(5):693-697. Epub 2017 Jan 24.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.25403DOI Listing
May 2017

Electrophysiologic features of ulnar neuropathy in childhood and adolescence.

Clin Neurophysiol 2017 05 20;128(5):751-755. Epub 2017 Feb 20.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA; Department of Neurology, University of Florida College of Medicine, Gainesville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2017.01.024DOI Listing
May 2017

Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 AAP/CNS Workforce Survey.

Pediatr Neurol 2017 01 3;66:89-95. Epub 2016 Oct 3.

Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.018DOI Listing
January 2017

Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.

Muscle Nerve 2016 12 1;54(6):997-1006. Epub 2016 Oct 1.

Departments of Neurology and Humanities, Penn State Hershey Medical Center, 30 Hope Drive, Hershey, Pennsylvania, 17033, USA.

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http://dx.doi.org/10.1002/mus.25400DOI Listing
December 2016

Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents.

J Pediatr 2016 Nov 24;178:227-232. Epub 2016 Aug 24.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.07.040DOI Listing
November 2016

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Muscle Nerve 2016 10 24;54(4):690-5. Epub 2016 Aug 24.

Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610.

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http://dx.doi.org/10.1002/mus.25094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5453499PMC
October 2016

The child neurology clinical workforce in 2015: Report of the AAP/CNS Joint Taskforce.

Neurology 2016 Sep 26;87(13):1384-92. Epub 2016 Aug 26.

From the Division of Pediatric Neurology (P.B.K.), Department of Pediatrics, University of Florida College of Medicine, Gainesville; Division of Pediatric Neurology (J.F.B.), University of Utah School of Medicine, Salt Lake City; The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey (M.M.), Voorhees; Division of Pediatric Neurology (S.M.J.), Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor; Division of Pediatric Neurology (D.L.G.), Cincinnati Children's Hospital Medical Center, OH; and American Academy of Pediatrics Division of Workforce and Medical Education Policy (C.R., H.R.-R.), Elk Grove Village, IL.

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http://dx.doi.org/10.1212/WNL.0000000000003147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5047042PMC
September 2016

Neuropathic and Myopathic Pain.

Semin Pediatr Neurol 2016 08 14;23(3):242-247. Epub 2016 Oct 14.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL.

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http://dx.doi.org/10.1016/j.spen.2016.10.008DOI Listing
August 2016

PLIN2 inhibits insulin-induced glucose uptake in myoblasts through the activation of the NLRP3 inflammasome.

Int J Mol Med 2015 Sep 8;36(3):839-44. Epub 2015 Jul 8.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.

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http://dx.doi.org/10.3892/ijmm.2015.2276DOI Listing
September 2015

Advances in Muscular Dystrophies.

JAMA Neurol 2015 Jul;72(7):741-2

Center for Human Experimental Therapeutics, Departments of Neurology, Medicine, Pediatrics, and Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York.

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http://dx.doi.org/10.1001/jamaneurol.2014.4621DOI Listing
July 2015

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Muscle Nerve 2015 Apr 11;51(4):522-32. Epub 2015 Feb 11.

Department of Neurology, Washington University School of Medicine in Saint Louis, St. Louis, Missouri, 63110, USA; Department of Pediatrics, Washington University School of Medicine in Saint Louis, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/mus.24346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4305351PMC
April 2015

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

J Clin Endocrinol Metab 2015 Mar 5;100(3):E473-7. Epub 2015 Jan 5.

Harvard Reproductive Endocrine Sciences Center (R.B.), The Reproductive Endocrine Unit of the Department of Medicine (R.B.), Massachusetts General Hospital, Boston, Massachusetts 02114; Harvard Medical School (R.B., S.C., P.B.K., C.A., W.-M.C., E.C.E.), Boston, Massachusetts 02115; Department of Neurology (S.C., P.B.K., C.A., W.-M.C., E.C.E.), Kirby Neurobiology Center (S.C., C.A., W.-M.C., E.C.E.), and Department of Ophthalmology (S.E.M., E.C.E.), Boston Children's Hospital, Boston, Massachusetts 02115; and Howard Hughes Medical Institute (S.C., C.A., W.-M.C., E.C.E.), Chevy Chase, Maryland 20815.

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http://dx.doi.org/10.1210/jc.2014-4107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333039PMC
March 2015

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Neurology 2015 Mar;84(13):1369-78

From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.

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http://www.muscle.ca/wp-content/uploads/2012/11/FSHD_Neurolo
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000141
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http://dx.doi.org/10.1212/WNL.0000000000001416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4388744PMC
March 2015

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Hum Mol Genet 2014 Nov 11;23(21):5781-92. Epub 2014 Jun 11.

Department of Pharmacology and Physiology and Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA,

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http://dx.doi.org/10.1093/hmg/ddu296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189906PMC
November 2014

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.

Clin Epigenetics 2014 29;6(1):23. Epub 2014 Oct 29.

The Wellstone Program & The Department of Cell and Developmental Biology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655 USA ; The Department of Neurology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655 USA ; The Eunice Kennedy Shriver National Institute of Child Health and Human Development Sen. Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655 USA.

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http://dx.doi.org/10.1186/1868-7083-6-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232706PMC
November 2014

Silencing of drpr leads to muscle and brain degeneration in adult Drosophila.

Am J Pathol 2014 Oct 8;184(10):2653-61. Epub 2014 Aug 8.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2014.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188861PMC
October 2014

Reply: To PMID 23893312.

Muscle Nerve 2014 Sep 5;50(3):458-9. Epub 2014 Aug 5.

Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, Florida, USA.

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http://dx.doi.org/10.1002/mus.24317DOI Listing
September 2014

Referral and diagnostic trends in pediatric electromyography in the molecular era.

Muscle Nerve 2014 Aug 5;50(2):244-9. Epub 2014 May 5.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA; Department of Neurology, Lahey Clinic, Burlington, Massachusetts, USA; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/mus.24152DOI Listing
August 2014

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Neurology 2014 Aug 30;83(9):810-7. Epub 2014 Jul 30.

From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.

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http://dx.doi.org/10.1212/WNL.0000000000000741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155049PMC
August 2014

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Muscle Nerve 2014 May;49(5):636-44

Department of Neurology, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

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http://dx.doi.org/10.1002/mus.23967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090017PMC
May 2014

Ethical issues in neurogenetic disorders.

Authors:
Peter B Kang

Handb Clin Neurol 2013 ;118:265-76

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-53501-6.00022-6DOI Listing
April 2014

Update on juvenile myasthenia gravis.

Curr Opin Pediatr 2013 Dec;25(6):694-700

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, USA.

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http://dx.doi.org/10.1097/MOP.0b013e328365ad16DOI Listing
December 2013

The new frontier of genetically targeted therapies for muscle disease.

Authors:
Peter B Kang

Continuum (Minneap Minn) 2013 Dec;19(6 Muscle Disease):1698-702

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http://dx.doi.org/10.1212/01.CON.0000440666.79792.84DOI Listing
December 2013

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

FEBS Lett 2013 Sep 15;587(18):2952-7. Epub 2013 Aug 15.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.febslet.2013.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791867PMC
September 2013

Beyond the gowers sign: measuring outcomes in Duchenne muscular dystrophy.

Authors:
Peter B Kang

Muscle Nerve 2013 Sep;48(3):315-7

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1002/mus.23984DOI Listing
September 2013

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.

Ther Adv Neurol Disord 2013 May;6(3):147-60

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA and Neurology service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.1177/1756285612472386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625012PMC
May 2013

Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities.

Muscle Nerve 2013 Apr 5;47(4):488-92. Epub 2013 Mar 5.

Department of Neurology, Emory University School of Medicine, Woodruff Memorial Research Building, 101 Woodruff Circle, Atlanta, Georgia 30322, USA.

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http://doi.wiley.com/10.1002/mus.23622
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http://dx.doi.org/10.1002/mus.23622DOI Listing
April 2013

Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series.

Neuromuscul Disord 2013 Feb 6;23(2):103-11. Epub 2012 Nov 6.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada K1H 8L1.

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http://dx.doi.org/10.1016/j.nmd.2012.09.008DOI Listing
February 2013

Update on the genetics of limb girdle muscular dystrophy.

Semin Pediatr Neurol 2012 Dec;19(4):211-8

Program in Genomics and Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10719091120007
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http://dx.doi.org/10.1016/j.spen.2012.09.008DOI Listing
December 2012

Rapid reversal of uremic neuropathy following renal transplantation in an adolescent.

Pediatr Transplant 2012 Nov 21;16(7):E296-300. Epub 2011 Dec 21.

Department of Neurology, Lahey Clinic Medical Center, Burlington, MA, USA.

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http://doi.wiley.com/10.1111/j.1399-3046.2011.01630.x
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http://dx.doi.org/10.1111/j.1399-3046.2011.01630.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3311733PMC
November 2012

The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years.

Pediatr Neurol 2012 Aug;47(2):97-100

Electromyography Laboratory, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.05.003DOI Listing
August 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Autoimmune neuromuscular disorders in childhood.

Curr Treat Options Neurol 2011 Dec;13(6):590-607

Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1007/s11940-011-0146-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207132PMC
December 2011

The struggle to model muscular dystrophy.

Authors:
Peter B Kang

Muscle Nerve 2011 Aug 9;44(2):157-9. Epub 2011 Jun 9.

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http://dx.doi.org/10.1002/mus.22124DOI Listing
August 2011

Regulation of DMD pathology by an ankyrin-encoded miRNA.

Skelet Muscle 2011 Aug 8;1:27. Epub 2011 Aug 8.

Program in Genomics and Division of Genetics, Children's Hospital Boston, 3 Blackfan Circle, CLS15024, Boston, MA 02115, USA.

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http://dx.doi.org/10.1186/2044-5040-1-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188430PMC
August 2011

Presymptomatic and early symptomatic genetic testing.

Authors:
Peter B Kang

Continuum (Minneap Minn) 2011 Apr;17(2 Neurogenetics):343-6

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http://dx.doi.org/10.1212/01.CON.0000396969.13188.0dDOI Listing
April 2011

Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy.

Pediatrics 2011 Jan 13;127(1):e132-6. Epub 2010 Dec 13.

Department of Neurology, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA.

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http://dx.doi.org/10.1542/peds.2010-0929DOI Listing
January 2011

Novel MPZ mutations and congenital hypomyelinating neuropathy.

Neuromuscul Disord 2010 Nov;20(11):725-9

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966100025
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http://dx.doi.org/10.1016/j.nmd.2010.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952650PMC
November 2010

Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations.

Muscle Nerve 2009 Nov;40(5):860-3

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.21401DOI Listing
November 2009

Congenital myasthenic syndrome with episodic apnea.

Pediatr Neurol 2009 Jul;41(1):42-5

Department of Medicine, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.02.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718786PMC
July 2009

Juvenile myasthenia gravis.

Muscle Nerve 2009 Apr;39(4):423-31

Department of Neurology, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.

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http://doi.wiley.com/10.1002/mus.21195
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http://dx.doi.org/10.1002/mus.21195DOI Listing
April 2009

Child neurology: chronic inflammatory demyelinating polyradiculoneuropathy in children.

Neurology 2008 Dec;71(23):e74-8

Department of Neurology, Fegan 11, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://www.neurology.org/cgi/doi/10.1212/01.wnl.0000336646.9
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http://dx.doi.org/10.1212/01.wnl.0000336646.91734.b1DOI Listing
December 2008

Response of motor complications in Cockayne syndrome to carbidopa-levodopa.

Arch Neurol 2008 Aug;65(8):1117-21

Division ofGenetics, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1001/archneur.65.8.1117DOI Listing
August 2008

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.

Exp Neurol 2008 May 26;211(1):115-27. Epub 2008 Jan 26.

Department of Biochemistry, University of Utah School of Medicine, 15 N. Medical Drive East, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1016/j.expneurol.2008.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2409111PMC
May 2008

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

J Child Neurol 2008 Mar 29;23(3):349-52. Epub 2008 Jan 29.

Department of Neurology, Children's Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.

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http://journals.sagepub.com/doi/10.1177/0883073807309248
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March 2008

Clinical trials in spinal muscular atrophy.

Curr Opin Pediatr 2007 Dec;19(6):675-9

Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1097/MOP.0b013e3282f1884cDOI Listing
December 2007

Cardiac electrophysiological characteristics of the mdx ( 5cv ) mouse model of Duchenne muscular dystrophy.

J Interv Card Electrophysiol 2007 Nov 17;20(1-2):1-7. Epub 2007 Oct 17.

Department of Cardiology, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s10840-007-9168-zDOI Listing
November 2007

LGMD2I in a North American population.

BMC Musculoskelet Disord 2007 Nov 24;8:115. Epub 2007 Nov 24.

Program in Genomics, Children's Hospital Boston and Harvard Medical School, Boston, USA.

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http://dx.doi.org/10.1186/1471-2474-8-115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2216011PMC
November 2007

Distinctive patterns of microRNA expression in primary muscular disorders.

Proc Natl Acad Sci U S A 2007 Oct 17;104(43):17016-21. Epub 2007 Oct 17.

Howard Hughes Medical Institute, Program in Genomics, Division of Genetics, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1073/pnas.0708115104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2040449PMC
October 2007

The immuno cross-reactivity of gutta percha points.

Dent Mater 2007 Mar 14;23(3):380-4. Epub 2006 Mar 14.

Research and Laboratories, Division of Science, American Dental Association, Chicago, IL 60611, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S010956410600049
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http://dx.doi.org/10.1016/j.dental.2006.02.006DOI Listing
March 2007

Surfactant protein D increases fusion of Mycobacterium tuberculosis-containing phagosomes with lysosomes in human macrophages.

Infect Immun 2006 Dec 9;74(12):7005-9. Epub 2006 Oct 9.

Division of Infectious Diseases, Department of Internal Medicine, The Ohio State University, N-1147 Doan Hall, 410 W. 10th Avenue, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1128/IAI.01402-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698096PMC
December 2006

Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes.

BMC Musculoskelet Disord 2006 Mar 7;7:23. Epub 2006 Mar 7.

Children's Hospital Informatics Program, Harvard-MIT Division of Health Sciences and Technology, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1186/1471-2474-7-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1525166PMC
March 2006

Variations in gene expression among different types of human skeletal muscle.

Muscle Nerve 2005 Oct;32(4):483-91

Genomics Program, Enders 561, Howard Hughes Medical Institute and Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/mus.20356DOI Listing
October 2005

The human macrophage mannose receptor directs Mycobacterium tuberculosis lipoarabinomannan-mediated phagosome biogenesis.

J Exp Med 2005 Oct;202(7):987-99

Division of Infectious Diseases, Department of Internal Medicine, Center for Microbial Interface Biology, The Ohio State University, Columbus, OH 43210, USA.

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http://www.jem.org/lookup/doi/10.1084/jem.20051239
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http://dx.doi.org/10.1084/jem.20051239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2213176PMC
October 2005

The influence of muscle type and dystrophin deficiency on murine expression profiles.

Mamm Genome 2005 Oct 29;16(10):739-48. Epub 2005 Oct 29.

Division of Genetics and Genomics Program, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1007/s00335-005-0053-8DOI Listing
October 2005

Involvement of superficial peroneal sensory nerve in common peroneal neuropathy.

Muscle Nerve 2005 Jun;31(6):725-9

Department of Neurology, Children's Hospital, and Harvard Medical School, Boston, Massachusetts, USA.

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http://doi.wiley.com/10.1002/mus.20329
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June 2005

Multifocal slowing of nerve conduction in metachromatic leukodystrophy.

Muscle Nerve 2004 Apr;29(4):531-6

Department of Neurology, Lahey Clinic, 41 Mall Road, Burlington, Massachusetts 01805, USA.

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http://dx.doi.org/10.1002/mus.10569DOI Listing
April 2004

Transcriptional profile of postmortem skeletal muscle.

Physiol Genomics 2004 Jan 15;16(2):222-8. Epub 2004 Jan 15.

Genetics Division and Genomics Program, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1152/physiolgenomics.00137.2003DOI Listing
January 2004

Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita.

Ann Neurol 2003 Dec;54(6):790-5

Department of Neurology, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/ana.10769DOI Listing
December 2003

Ambulatory foot temperature measurement: a new technique in polyneuropathy evaluation.

Muscle Nerve 2003 Jun;27(6):737-42

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Avenue, TCC-810, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.10379DOI Listing
June 2003

Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction.

J Child Neurol 2002 Jun;17(6):421-8

Division of Neurology, Children's Hospital of Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/088307380201700605DOI Listing
June 2002