Publications by authors named "Richard Finkel"

100Publications

Spinal muscular atrophy - insights and challenges in the treatment era.

Nat Rev Neurol 2020 Dec 14;16(12):706-715. Epub 2020 Oct 14.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.

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December 2020

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

Neuromuscul Disord 2020 09 25;30(9):756-764. Epub 2020 Jul 25.

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

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September 2020

Gain and loss of abilities in type II SMA: A 12-month natural history study.

Neuromuscul Disord 2020 09 13;30(9):765-771. Epub 2020 Jul 13.

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

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September 2020

Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy.

Front Neurol 2020 28;11:783. Epub 2020 Jul 28.

Department of Neurology, University Hospital Essen, Essen, Germany.

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July 2020

Modeling disease trajectory in Duchenne muscular dystrophy.

Neurology 2020 04 17;94(15):e1622-e1633. Epub 2020 Mar 17.

From the Advanced Imaging Research Center (W.D.R., Y.A.B., I.A., E.O., B.M.), Department of Neurology (W.D.R., I.A., B.S.R., E.L.F.), Department of Biomedical Engineering (W.D.R.), Department of Behavioral Neuroscience (W.D.R., Y.A.B.), and Department of Pediatrics (B.S.R., E.L.F.), Oregon Health & Science University, Portland; Departments of Physical Therapy (W.T.T., S.C.F., R.J.W., H.A., C.S., D.J.L., K.V.), Statistics (S.C., M.J.D.), Physiology and Functional Genomics (A.B., G.A.W.), and Pharmacology & Therapeutics (H.L.S.), University of Florida, Gainesville; Department of Radiology (D.-J.W.) and Division of Neurology (G.T.), Children's Hospital of Philadelphia, PA; Department of Pediatrics (R.F.), Nemours Children's Hospital, Orlando, FL; and Shriners Hospital (B.S.R., E.L.F.), Portland, OR.

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April 2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Neurology 2020 03 11;94(9):e884-e896. Epub 2020 Feb 11.

From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P.,* D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.*), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PA.

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March 2020

A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy.

Neuromuscul Disord 2019 12 22;29(12):940-950. Epub 2019 Oct 22.

Pediatric Neurology Unit, Catholic University, Largo Gemelli 8, 00168 Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

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December 2019

Development of an academic disease registry for spinal muscular atrophy.

Neuromuscul Disord 2019 10 29;29(10):794-799. Epub 2019 Aug 29.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.

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October 2019

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

Neurology 2019 09 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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September 2019

Evolution of Next Generation Therapeutics: Past, Present, and Future of Precision Medicines.

Clin Transl Sci 2019 11 23;12(6):560-563. Epub 2019 Aug 23.

Office of Clinical Pharmacology, Office of Translational Sciences, Center for Drug Evaluation and Research (CDER), US Food and Drug Administration (FDA), Silver Spring, Maryland, USA.

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November 2019

Genetic therapies for inherited neuromuscular disorders.

Lancet Child Adolesc Health 2018 08 27;2(8):600-609. Epub 2018 Jun 27.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK. Electronic address:

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August 2018

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

Pediatr Phys Ther 2018 07;30(3):209-215

Departments of Neurology (Drs Salazar, Montes, Young, Chiriboga, and De Vivo) and Rehabilitation and Regenerative Medicine (Drs Montes and Young), Columbia University Medical Center, New York, New York; Departments of Biostatistics and Computational Biology (Dr McDermott) and Neurology (Mr Martens and Dr McDermott), University of Rochester, Rochester, New York; Departments of Neurology (Dr Darras) and Physical Therapy and Occupational Therapy Services (Drs Pasternak and Mirek and Ms Quigley), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Division of Neurology (Dr Tennekoon) and Department of Physical Therapy (Dr Glanzman), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology (Mr Civitello and Dr Finkel), Nemours Children's Hospital, Orlando, Florida; Department of Neurology (Mr Gee, Ms Duong, and Dr Day), Stanford University School of Medicine, Palo Alto, California; Department of Paediatric Neurology (Mss Mazzone, Coratti, and Fanelli, Messrs De Sanctis and Forcina, and Dr Mercuri), Catholic University, Rome, Italy; Dubowitz Neuromuscular Centre (Mss Main and Ramsey and Drs Scoto and Muntoni), UCL Great Ormond Street Institute of Child Health, London, United Kingdom; John Walton Muscular Dystrophy Research Centre (Dr Mayhew and Mr Muni Lofra), Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.

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July 2018

Two-Year Longitudinal Changes in Lower Limb Strength and Its Relation to Loss in Function in a Large Cohort of Patients With Duchenne Muscular Dystrophy.

Am J Phys Med Rehabil 2018 10;97(10):734-740

From the Department of Physical Therapy, University of Florida, Gainesville, Florida (AB, DJL, RW, CRS, WM, SCF, WT, JKD, KV); Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (AH); Department of Statistics, University of Florida, Gainesville, Florida (DX, MJD); Department of Physical Therapy, University of Toronto, Toronto, Ontario, Canada (SM); Advanced Imaging Research Center, Oregon Health and Science University, Portland, Oregon (WDR); Department of Neurology, Oregon Health and Science University, Portland, Oregon (IA); Department of Occupational Therapy, School of Health and Rehabilitation Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania (RB); Department of Pediatrics, Nemours Children's Hospital, Orlando, Florida (RF); Department of Pediatrics, Oregon Health and Science University, Portland, Oregon (EF); Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (GT); Department of Pediatrics, University of Florida, Gainesville, Florida (BB); Division of Neurology, Oregon Health and Science University, Portland, Oregon (BR); Department of Pharmacology and Therapeutics, University of Florida, Gainesville, Florida (HLS); and Department of Physiology and Functional Genomics, University of Florida, Gainesville, Florida (GW).

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October 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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February 2018

Therapy for Spinal Muscular Atrophy.

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

Biogen, Cambridge, MA

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February 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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November 2017

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy.

Neurology 2017 Oct 29;89(17):1811-1820. Epub 2017 Sep 29.

From the Cedars-Sinai Medical Center (R.G.V.), Los Angeles, CA; University of Florida (H.L.S., B.B., K.V.), Gainesville; Nemours Children's Hospital (R.F.), Orlando, FL; University of California at Davis (C.M.M.), Sacramento; Newcastle University (M.E.), Newcastle Upon Tyne, UK; University Hospitals Leuven (N.G.), Belgium; Instituto de Neurociencias-Fundacion Favaloro (A.L.D.), Buenos Aires, Argentina; Hacettepe University School of Medicine (H.T.), Ankara, Turkey; UCLA (M.C.M., R.E.), Los Angeles, CA; Parent Project Muscular Dystrophy (P.F.), Hackensack, NJ; Eli Lilly Canada, Eli Lilly and Company, Toronto, ON (J.L.); and Eli Lilly and Company (D.C.), Indianapolis, IN.

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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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September 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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October 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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October 2017

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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January 2018

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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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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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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January 2015

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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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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August 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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September 2014

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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December 2014

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

J Neuropathol Exp Neurol 2014 May;73(5):425-41

From the National Institute of Nursing Research, Bethesda, Maryland (KGM); National Institute of Neurological Disorders and Stroke, Bethesda, Maryland (KZ, JD, YH, SD, CGB); Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (LM, LBR-A); Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama (PF); Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware (NP-H, MS); Prevention Genetics, Marshfield, Wisconsin (TLW); Pediatric Neurology Department, National Neuroscience Institute (AA), and Division of Medical Genetics, Department of Pediatrics, The Children's Hospital (AWE), King Fahad Medical City; and College of Medicine, King Saud bin Abdulaziz University for Health Sciences (AA,AWE), Riyadh, Kingdom of Saudi Arabia; Department of Pathology, Brigham and Women's Hospital (JAG); and Harvard Medical School (JAG), Boston, Massachusetts; Department of Pathology, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania (RE); Nemours Children's Hospital, Orlando, Florida (RF); and Medical Examiner's Office, Mount Holly, New Jersey (ICH).

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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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March 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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May 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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October 2013