Richard S Finkel

Richard S Finkel

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Richard S Finkel

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Balance impairment in pediatric charcot-marie-tooth disease.

Muscle Nerve 2019 Sep 15;60(3):242-249. Epub 2019 May 15.

Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mus.26500DOI Listing
September 2019

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.

Neurology 2019 Sep 26;93(13):e1312-e1323. Epub 2019 Aug 26.

From ReveraGen Biopharma (E.P.H., J.M.M., K.N., J.v.d.A., L.S.C., J.M.D.), Rockville, MD; Binghamton University-SUNY (E.P.H., K.N.), NY: Camden Group (B.D.S., L.J.M.-G.), LLC, St. Louis, MO; Duke University (E.C.S.), Durham, NC; University of Texas Southwestern (D.C.), Dallas; Alberta Children's Hospital (J.K.M.), Calgary, Canada; University of California Davis (C.M.M.), Sacramento; Ann & Robert H. Lurie Children's Hospital (N.L.K.), Chicago, IL; Nemours Children's Hospital (R.S.F.), Orlando, FL; John Walton Muscular Dystrophy Research Centre (M.G., K.B.), Newcastle University, Newcastle-Upon-Tyne, UK; Queen Silvia Children's Hospital (M.T.), Gothenburg, Sweden; Schneider Children's Medical Center (Y.N.), Tel Aviv University, Israel; Royal Children's Hospital and Murdoch Children's Research Institute (M.M.R.), Melbourne, Australia; The Children's Hospital at Westmead (R.W.), Sydney, Australia; TRiNDS LLC (A.L.S., L.P.M., A.A., M.S., C.S.), Kensington, MD; Summit Analytical (M.J., P.S.), Denver, CO; Children's National Health System (J.v.d.A., L.S.C., A.C., H.G.-D.), Washington, DC; and University of Pittsburgh and Department of Veterans Affairs Medical Center (P.R.C.), PA.

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http://dx.doi.org/10.1212/WNL.0000000000008168DOI Listing
September 2019

Therapy for Spinal Muscular Atrophy.

N Engl J Med 2018 02;378(5):487-488

Biogen, Cambridge, MA

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http://dx.doi.org/10.1056/NEJMc1715769DOI Listing
February 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

Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2: Experience from a nusinersen clinical study.

Muscle Nerve 2018 Jan 14;57(1):142-146. Epub 2017 Jun 14.

Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, Florida, USA.

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http://doi.wiley.com/10.1002/mus.25705
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http://dx.doi.org/10.1002/mus.25705DOI Listing
January 2018

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

N Engl J Med 2017 11;377(18):1723-1732

From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).

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http://www.nejm.org/doi/10.1056/NEJMoa1702752
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http://dx.doi.org/10.1056/NEJMoa1702752DOI Listing
November 2017

Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials.

Neuromuscul Disord 2017 Oct 21;27(10):905-910. Epub 2017 Jul 21.

University of Central Florida College of Medicine, Orlando, FL, USA; Nemours Children's Hospital, Orlando, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628390PMC
October 2017

Spinal muscular atrophy: A changing phenotype beyond the clinical trials.

Neuromuscul Disord 2017 Oct 17;27(10):883-889. Epub 2017 May 17.

Nemours Children's Hospital, Orlando, FL, USA; University of Central Florida College of Medicine, Orlando, FL, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173015
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http://dx.doi.org/10.1016/j.nmd.2017.05.011DOI Listing
October 2017

X-linked myotubular myopathy: Living longer and awaiting treatment.

Neurology 2017 09 25;89(13):1316-1317. Epub 2017 Aug 25.

From the Division of Neurology (R.S.F.), Department of Pediatrics, Nemours Children's Hospital; University of Central Florida College of Medicine (R.S.F.), Orlando; and Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA.

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http://dx.doi.org/10.1212/WNL.0000000000004428DOI Listing
September 2017

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.

Neuromuscul Disord 2017 06 2;27(6):596-605. Epub 2017 Mar 2.

Pediatric Neurology, Policlinico Gemelli, Catholic University and Centro Nemo, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.014DOI Listing
June 2017

Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials?

J Child Neurol 2017 02 22;32(2):155-160. Epub 2016 Oct 22.

3 US Food and Drug Administration, Silver Spring, MD, USA.

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http://dx.doi.org/10.1177/0883073816671236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5258738PMC
February 2017

Spectrum of neuropathophysiology in spinal muscular atrophy type I.

J Neuropathol Exp Neurol 2015 Jan;74(1):15-24

From the Departments of Pathology (BNH), Pediatrics (BNH, MB, SWY, GT, RSF), and Neurology (SWY, GT, RSF), The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and Center for Motor Neuron Biology and Disease (SK, URM) and the Departments of Pathology and Cell Biology (SK, URM), Neurology (URM), and Pediatrics (WKC), Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1097/NEN.0000000000000144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350580PMC
January 2015

Respiratory muscle function in infants with spinal muscular atrophy type I.

Pediatr Pulmonol 2014 Dec 29;49(12):1234-42. Epub 2014 Apr 29.

Divisions of Neurology, Nemours Children's Hospital, Orlando, Florida.

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http://dx.doi.org/10.1002/ppul.22997DOI Listing
December 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

Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS.

Neurology 2014 Sep 6;83(11):974-80. Epub 2014 Aug 6.

From the Departments of Physical Therapy (I.A., R.J.W., S.C.F., D.J.L., W.T.T., C.R.S., K.V.), Physiology and Functional Genomics (G.A.W.), and Pediatrics (B.J.B.), and Molecular Genetics & Microbiology, Powell Gene Therapy Center (B.J.B.), University of Florida, Gainesville; The Children's Hospital of Philadelphia (R.S.F., D.-J.W., G.I.T.), PA; Oregon Health & Science University (W.D.R., E.L.F., B.S.R.), Portland; the Departments of Integrative Biology and Statistics and Data Sciences (M.J.D.), The University of Texas at Austin; Shriners Hospital for Children (B.S.R.), Philadelphia, PA; and the Department of Physiology (H.L.S.), University of Pennsylvania, Philadelphia.

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http://www.neurology.org/content/83/11/974.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000077
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http://dx.doi.org/10.1212/WNL.0000000000000775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162304PMC
September 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

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy.

Radiology 2013 Oct 21;269(1):198-207. Epub 2013 May 21.

Department of Physical Therapy, Department of Physiology and Functional Genomics, and Department of Pediatrics and Molecular Genetics and Microbiology, Powell Gene Therapy Center, University of Florida, Box 100154, UFHSC, Gainesville, FL 32610; Advanced Imaging Research Center, Oregon Health and Science University, Portland, Ore; Division of Neurology and Department of Radiology, the Children's Hospital of Philadelphia, Philadelphia, Pa; Section of Integrative Biology, Division of Statistics and Scientific Computation, the University of Texas at Austin, Austin, Tex; Departments of Pediatrics and Neurology, Oregon Health and Science University, Shriners Hospital for Children, Portland, Ore; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, Fla.

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http://dx.doi.org/10.1148/radiol.13121948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781359PMC
October 2013

The evaluation of peripheral neuropathy in youth with type 1 diabetes.

Diabetes Res Clin Pract 2013 Apr 5;100(1):e3-6. Epub 2013 Feb 5.

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.

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http://dx.doi.org/10.1016/j.diabres.2013.01.015DOI Listing
April 2013

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Ann Neurol 2013 Apr 20;73(4):481-8. Epub 2013 Feb 20.

Center for Gene Therapy, Nationwide Children' Hospital, Columbus, OH; Department of Pediatrics, Ohio State University, Columbus, OH; Department of Neurology, Ohio State University, Columbus, OH.

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http://dx.doi.org/10.1002/ana.23819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106425PMC
April 2013

Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I.

Authors:
Richard S Finkel

Neuromuscul Disord 2013 Feb 10;23(2):112-5. Epub 2012 Nov 10.

Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, FL 32827, USA.

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http://dx.doi.org/10.1016/j.nmd.2012.09.006DOI Listing
February 2013

Stem cells in severe infantile spinal muscular atrophy (SMA1).

Authors:
Richard S Finkel

Neuromuscul Disord 2012 Dec;22(12):1105-6

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http://dx.doi.org/10.1016/j.nmd.2012.11.002DOI Listing
December 2012

MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy.

Neuromuscul Disord 2012 Oct;22 Suppl 2:S111-21

Department of Physical Therapy, University of Florida, Gainesville, FL 32610, United States.

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http://dx.doi.org/10.1016/j.nmd.2012.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458312PMC
October 2012

Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.

PLoS One 2012 27;7(4):e35462. Epub 2012 Apr 27.

Department of Neurology and Pediatrics, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0035462PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338723PMC
September 2012

Serial casting for the management of ankle contracture in Duchenne muscular dystrophy.

Pediatr Phys Ther 2011 ;23(3):275-9

Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1097/PEP.0b013e318227c4e3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210185PMC
December 2011

Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings.

Mol Genet Metab 2011 Feb 28;102(2):207-9. Epub 2010 Oct 28.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053057PMC
February 2011

Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).

Authors:
Richard S Finkel

J Child Neurol 2010 Sep 2;25(9):1158-64. Epub 2010 Jun 2.

Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1177/0883073810371129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674569PMC
September 2010

Quality of life in children with CMT type 1A.

Lancet Neurol 2009 Oct;8(10):880-1; author reply 881

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http://dx.doi.org/10.1016/S1474-4422(09)70247-9DOI Listing
October 2009

Utility of fetal muscle biopsy for diagnosis of nemaline myopathy.

Fetal Diagn Ther 2008 6;24(4):400-4. Epub 2008 Nov 6.

The Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.

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http://dx.doi.org/10.1159/000170095DOI Listing
April 2009

Intravenous levetiracetam terminates refractory focal status epilepticus.

Neurocrit Care 2009 ;10(1):83-6

Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s12028-007-9044-9DOI Listing
March 2009

A teenager with focal weakness.

Pediatr Emerg Care 2008 Dec;24(12):875-9

Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1097/PEC.0b013e3181903dc8DOI Listing
December 2008

The test of infant motor performance: reliability in spinal muscular atrophy type I.

Pediatr Phys Ther 2008 ;20(3):242-6

Department of Neurology, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1097/PEP.0b013e318181ae96DOI Listing
November 2008

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.

Ann Neurol 2008 Jan;63(1):81-9

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1002/ana.21290DOI Listing
January 2008

Consensus statement for standard of care in spinal muscular atrophy.

J Child Neurol 2007 Aug;22(8):1027-49

Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford, California 94305-5235, USA.

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http://dx.doi.org/10.1177/0883073807305788DOI Listing
August 2007

Fascia iliaca block for an infant with arthrogryposis multiplex congenita undergoing muscle biopsy.

Anesth Analg 2005 Jan;100(1):82-4

Department of Anesthesiology and Critical Care Medicine, The Children's Hospital of Philadelphia, 34th St. and Civic Center Blvd., Philadelphia, PA 19104-4399, USA.

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http://dx.doi.org/10.1213/01.ANE.0000138036.83973.9ADOI Listing
January 2005

Blue cohosh and perinatal stroke.

N Engl J Med 2004 Jul;351(3):302-3

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http://dx.doi.org/10.1056/NEJM200407153510323DOI Listing
July 2004

Laryngeal electromyography in the management of vocal cord mobility problems in children.

Laryngoscope 2002 Jul;112(7 Pt 1):1243-8

Divisions of Pediatric Otolaryngology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, U.S.A.

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http://dx.doi.org/10.1097/00005537-200207000-00019DOI Listing
July 2002

Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.

Semin Pediatr Neurol 2002 Jun;9(2):81-99

Division of Neurology, The Children's Hospital of Philadelphia, PA 19104, USA.

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June 2002