Basil T Darras

Basil T Darras

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Basil T Darras

Publications by authors named "Basil T Darras"

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Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit.

J Child Neurol 2019 Sep 10:883073819871437. Epub 2019 Sep 10.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073819871437DOI Listing
September 2019

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

Neurology 2019 May 24;92(21):e2492-e2506. Epub 2019 Apr 24.

From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; 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 Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.

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http://dx.doi.org/10.1212/WNL.0000000000007527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541434PMC
May 2019

X-linked myotubular myopathy: A prospective international natural history study.

Neurology 2019 Apr 22;92(16):e1852-e1867. Epub 2019 Mar 22.

From I-Motion (M.A., C.L., T.G., E.G., V.C., L.S.), Institute of Myology, Paris, France; Paediatric Neurology and Neuromuscular Center (U.S., A.G.), University of Essen, Germany; Unit of Neuromuscular and Neurodegenerative Disorders (A. D'Amico), Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children, Toronto, Canada; Boston Children's Hospital (B.T.D.), MA; Centre de Référence Neuromusculaire (A. Daron), CHR La Citadelle, Liège, Belgium; UCI Pediatrica (A.H.), Hospital Puerta del Mar, Cadiz, Spain; Centre de Référence Maladies Neuromusculaires Adulte (C.d.L.), Hôpital de la Croix-Rousse, Hospices Civils de Lyon; Service de Réanimation Polyvalente (J.-M.A.), Hôpital Sainte Musse, Toulon; Centre de Référence des Maladies Neuromusculaires d'Ile de France-Nord et Est (M.M.), Hôpital Armand Trousseau, Paris; Service de Neuropédiatrie Hôpital Roger Salengro (J.-M.C.), CHRU, Lille; Service de Rééducation Pédiatrique "L'Escale" (C.V., S.F.), Hôpital Mère Enfant, CHU-Lyon, France; CeRCa (R.B.), Hôpital Pierre-Zobda-Quitman, CHU de Martinique, Fort-de-France, Martinique; Laboratoire Diagnostic Génétique (V.B.), Nouvel Hôpital Civil, Strasbourg; Genethon (A.B.-B.), UMR S951 Inserm, Univ Evry, Université Paris Saclay, Evry; Neuromuscular Investigation Center (J.-Y.H.), Institute of Myology, Paris, France; and Valerion Therapeutics (H.L.), Concord, MA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000007319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550499PMC
April 2019

Homozygous mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Neurol Genet 2019 Apr 7;5(2):e312. Epub 2019 Mar 7.

Department of Molecular and Cellular Biology (J.V., R.G.), Harvard University, Cambridge; Division of Genetics (M.M.M., A.T.-P., C.G., A.H.B., N.C., B.T.D., N.Y.F., J.K., V.A.G.), Brigham Genomic Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston; Division of Genetics (E.E.), Boston Children's Hospital; and Division of Neurology (B.T.D.), Boston Children's Hospital, Harvard Medical School, MA.

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http://dx.doi.org/10.1212/NXG.0000000000000312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454305PMC
April 2019

Systemic nature of spinal muscular atrophy revealed by studying insurance claims.

PLoS One 2019 14;14(3):e0213680. Epub 2019 Mar 14.

Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0213680PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417721PMC
March 2019

Precious SMA natural history data: A benchmark to measure future treatment successes.

Neurology 2018 08 25;91(8):337-339. Epub 2018 Jul 25.

From the Department of Neurology (B.T.D.), Neuromuscular Program, Boston Children's Hospital, and Harvard Medical School, Boston, MA; and Pediatric Neurology Service at Columbia University Irving Medical Center (D.C.D.), New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000006026DOI Listing
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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http://Insights.ovid.com/crossref?an=00001577-201807000-0001
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http://dx.doi.org/10.1097/PEP.0000000000000515DOI Listing
July 2018

Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach.

Neuromuscul Disord 2018 06 19;28(6):512-519. Epub 2018 Mar 19.

Division of Critical Care Medicine, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Center for Nutrition, Boston Children's Hospital, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.03.009DOI Listing
June 2018

Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center.

J Child Neurol 2018 05 26;33(6):389-396. Epub 2018 Mar 26.

1 Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073818758455DOI Listing
May 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

Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope.

Exp Ther Med 2018 Apr 22;15(4):3671-3672. Epub 2018 Feb 22.

Department of Clinical Virology, School of Medicine, University of Crete, 71003 Heraklion, Crete, Greece.

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http://www.spandidos-publications.com/10.3892/etm.2018.5883
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http://dx.doi.org/10.3892/etm.2018.5883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844006PMC
April 2018

Muscle compression improves reliability of ultrasound echo intensity.

Muscle Nerve 2018 03 30;57(3):423-429. Epub 2017 Sep 30.

Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.25779DOI Listing
March 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

NeuroNEXT is at your service.

Ann Neurol 2017 12 4;82(6):857-858. Epub 2017 Dec 4.

Boston Children's Hospital, Boston, MA.

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http://dx.doi.org/10.1002/ana.25100DOI Listing
December 2017

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

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

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

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Muscle Nerve 2017 05 3;55(5):761-765. Epub 2017 Feb 3.

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

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http://dx.doi.org/10.1002/mus.25416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5366284PMC
May 2017

Electrical impedance myography for assessment of Duchenne muscular dystrophy.

Ann Neurol 2017 May 4;81(5):622-632. Epub 2017 May 4.

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

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http://dx.doi.org/10.1002/ana.24874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444980PMC
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

Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children.

Pediatr Neurol 2017 05 16;70:26-33. Epub 2017 Feb 16.

Department of Neurology, Boston Children's Hospital, Boston, MA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994173005
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http://dx.doi.org/10.1016/j.pediatrneurol.2017.02.006DOI Listing
May 2017

Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status.

Clin Neurophysiol 2016 Dec 13;127(12):3546-3551. Epub 2016 Oct 13.

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

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http://dx.doi.org/10.1016/j.clinph.2016.09.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181855PMC
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

Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis.

J Ultrasound Med 2016 Sep 14;35(9):1889-97. Epub 2016 Jul 14.

Department of Radiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts USA

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http://dx.doi.org/10.7863/ultra.15.04065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512886PMC
September 2016

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.

Neurology 2016 Mar 10;86(10):890-7. Epub 2016 Feb 10.

From the Departments of Neurology (C.A.C., J.M., D.C.D.) and Rehabilitative and Regenerative Medicine (J.M.), Columbia University, New York, NY; Department of Neurology (K.J.S.), University of Utah, Salt Lake City; Department of Neurology (B.T.D.), Boston Children's Hospital, Boston, MA; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical School, Dallas; and Ionis Pharmaceuticals, Inc. (formerly Isis Pharmaceuticals, Inc.) (D.A.N., C.F.B., K.M.B.), Carlsbad, CA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782111PMC
March 2016

Inter-session reliability of electrical impedance myography in children in a clinical trial setting.

Clin Neurophysiol 2015 Sep 28;126(9):1790-6. Epub 2014 Nov 28.

Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.clinph.2014.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447621PMC
September 2015

Dystrophinopathies.

Semin Neurol 2015 Aug 6;35(4):369-84. Epub 2015 Oct 6.

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

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http://dx.doi.org/10.1055/s-0035-1558982DOI Listing
August 2015

Spinal muscular atrophies.

Authors:
Basil T Darras

Pediatr Clin North Am 2015 Jun 11;62(3):743-66. Epub 2015 Apr 11.

Division of Clinical Neurology, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Fegan 11, Boston, MA 02115, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00313955150003
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http://dx.doi.org/10.1016/j.pcl.2015.03.010DOI Listing
June 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

Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques.

Muscle Nerve 2015 Feb 23;51(2):207-13. Epub 2014 Dec 23.

The Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.24296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241391PMC
February 2015

Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment.

Pediatr Neurol 2015 Feb 7;52(2):202-5. Epub 2014 Oct 7.

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336219PMC
February 2015

Optimizing electrical impedance myography measurements by using a multifrequency ratio: a study in Duchenne muscular dystrophy.

Clin Neurophysiol 2015 Jan 17;126(1):202-8. Epub 2014 May 17.

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234696PMC
http://dx.doi.org/10.1016/j.clinph.2014.05.007DOI Listing
January 2015

Congenital myopathies: Rebuilding the natural history, one gene at a time.

Neurology 2015 Jan 26;84(1):15-6. Epub 2014 Nov 26.

From the Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy; and Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1212/WNL.0000000000001117DOI Listing
January 2015

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

Minimal training is required to reliably perform quantitative ultrasound of muscle.

Muscle Nerve 2014 Jul 9;50(1):124-8. Epub 2014 May 9.

Departments of Neurology and Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St. Louis, Missouri, 63110, USA.

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http://dx.doi.org/10.1002/mus.24117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102884PMC
July 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

Lambert-Eaton syndrome, an unrecognized treatable pediatric neuromuscular disorder: three patients and literature review.

Pediatr Neurol 2014 Jan 15;50(1):11-7. Epub 2013 Oct 15.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Neurology, Lahey Clinic, Burlington, Massachusetts.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994130049
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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.009DOI Listing
January 2014

Neuromuscular disorders: from diagnosis to translational research, drug development and clinical trials.

Curr Opin Pediatr 2013 Dec;25(6):674-5

aDepartment of Neurology bDepartment of Anaesthesia (Pediatrics), Harvard Medical School and Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1097/MOP.0b013e328365de49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008827PMC
December 2013

Current advances in drug development in spinal muscular atrophy.

Curr Opin Pediatr 2013 Dec;25(6):682-8

aDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston bSaint Vincent Hospital, Worcester, USA *Priyamvada Singh and Wendy K.M. Liew contributed equally to the writing of this article.

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http://dx.doi.org/10.1097/MOP.0b013e32836565acDOI Listing
December 2013

Case of infantile onset spinocerebellar ataxia type 5.

J Child Neurol 2013 Oct 21;28(10):1292-5. Epub 2012 Aug 21.

1Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1177/0883073812454331DOI Listing
October 2013

Predicting hearing loss in facioscapulohumeral muscular dystrophy.

Neurology 2013 Oct 16;81(16):1370-1. Epub 2013 Sep 16.

From the Department of Neurology (B.T.D.), Boston Children's Hospital and Harvard Medical School, MA; and Department of Neurology (R.T.), University of Rochester Medical Center, NY.

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http://www.neurology.org/content/early/2013/09/13/WNL.0b013e
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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3182a841f
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http://dx.doi.org/10.1212/WNL.0b013e3182a841f7DOI Listing
October 2013

Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy.

Neurology 2013 Aug;81(7):e44-5

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

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http://dx.doi.org/10.1212/WNL.0b013e3182a08d13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3775691PMC
August 2013

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

BMC Med Genet 2013 Jul 2;14:68. Epub 2013 Jul 2.

Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.1186/1471-2350-14-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711885PMC
July 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

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

Machine learning algorithms to classify spinal muscular atrophy subtypes.

Neurology 2012 Jul 11;79(4):358-64. Epub 2012 Jul 11.

Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182604395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400094PMC
July 2012

Assessing electrical impedance alterations in spinal muscular atrophy via the finite element method.

Conf Proc IEEE Eng Med Biol Soc 2011 ;2011:1871-4

Beth Israel Deaconess Medical Center, Department of Neurology, Boston, MA 02215, USA.

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http://dx.doi.org/10.1109/IEMBS.2011.6090531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398735PMC
June 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

Electrical impedance myography in spinal muscular atrophy: a longitudinal study.

Muscle Nerve 2012 May;45(5):642-7

Department of Neurology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, Massachusetts 02215, USA.

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http://dx.doi.org/10.1002/mus.23233DOI Listing
May 2012

More can be less: SMN1 gene duplications are associated with sporadic ALS.

Authors:
Basil T Darras

Neurology 2012 Mar 8;78(11):770-1. Epub 2012 Feb 8.

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http://dx.doi.org/10.1212/WNL.0b013e318249f754DOI Listing
March 2012

Spinal muscular atrophy: a clinical and research update.

Pediatr Neurol 2012 Jan;46(1):1-12

Department of Neurology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.09.001DOI Listing
January 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

Child neurology residency training in neuromuscular disorders.

Authors:
Basil T Darras

Semin Pediatr Neurol 2011 Jun;18(2):116-9

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

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http://dx.doi.org/10.1016/j.spen.2011.05.017DOI Listing
June 2011

Pediatric sciatic neuropathy associated with neoplasms.

Muscle Nerve 2011 Feb;43(2):183-8

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

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http://dx.doi.org/10.1002/mus.21867DOI Listing
February 2011