Alan Pestronk

Alan Pestronk

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Alan Pestronk

Publications by authors named "Alan Pestronk"

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Selection design phase II trial of high dosages of tamoxifen and creatine in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Oct 14:1-9. Epub 2019 Oct 14.

Department of Neurology, Sean M Healey & AMG Center for ALS at Massachusetts General Hospital, Neurological Clinical Research Institute , Boston , MA , USA.

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http://dx.doi.org/10.1080/21678421.2019.1672750DOI Listing
October 2019

Immune myopathy with large histiocyte-related myofiber necrosis.

Neurology 2019 Apr 20;92(15):e1763-e1772. Epub 2019 Mar 20.

From the Departments of Neurology (A.P., C.L., R.B.) and Pathology and Immunology (A.P., N.S., R.S.), Washington University School of Medicine, Saint Louis, MO; and Department of Neurology (Z.A.), King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1212/WNL.0000000000007260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511085PMC
April 2019

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology 2019 Jan 9. Epub 2019 Jan 9.

From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.

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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.0000000000006858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369904PMC
January 2019

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Neuromuscul Disord 2018 08 21;28(8):675-679. Epub 2018 May 21.

Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6466613PMC
August 2018

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA).

J Neurol 2018 Jun 9;265(6):1402-1409. Epub 2018 Apr 9.

Division of Neuromuscular Medicine, Department of Neurology, Washington University in St. Louis, 660 S Euclid Ave, Box 8111, St. Louis, MO, 63110, USA.

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http://link.springer.com/10.1007/s00415-018-8853-4
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http://dx.doi.org/10.1007/s00415-018-8853-4DOI Listing
June 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Immune myopathies with perimysial pathology: Clinical and laboratory features.

Neurol Neuroimmunol Neuroinflamm 2018 Mar 17;5(2):e434. Epub 2018 Jan 17.

Department of Neurology, Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.1212/NXI.0000000000000434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773856PMC
March 2018

Cystinosis distal myopathy, novel clinical, pathological and genetic features.

Neuromuscul Disord 2017 Sep 15;27(9):873-878. Epub 2017 May 15.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, WA 6000, Australia.

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http://dx.doi.org/10.1016/j.nmd.2017.05.010DOI Listing
September 2017

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.

J Clin Neuromuscul Dis 2017 Sep;19(1):19-26

*Department of Neurology, Hadassah University Medical Center, Jerusalem, Israel; †Physical Medicine and Rehabilitation Department, NYU Langone Medical Center-Rusk Institute, New York, NY; ‡Clinical Research Unit, Hadassah University Medical Center, Jerusalem, Israel; §Washington University School of Medicine, Neuromuscular Division, St. Louis, MO; ¶UCLA Department of Orthopaedic Surgery, Kameron Gait and Motion Analysis Laboratory, Los Angeles, CA; ‖NYU Division of Neurogenetics, New York, NY; **UCLA Department of Neurology, Los Angeles, CA; and ††Clinical Outcomes Research and Evaluation, Ultragenyx Pharmaceutical, Inc, Novato, CA.

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http://dx.doi.org/10.1097/CND.0000000000000181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5636058PMC
September 2017

Clinical and Laboratory Profiles of Idiopathic Small Fiber Neuropathy in Children: Case Series.

J Clin Neuromuscul Dis 2017 Sep;19(1):31-37

*Department of Neurology, Saint Louis University School of Medicine, Louis, MO; and †Department of Neurology, Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.1097/CND.0000000000000178DOI Listing
September 2017

Sarcopenia, age, atrophy, and myopathy: Mitochondrial oxidative enzyme activities.

Muscle Nerve 2017 07 8;56(1):122-128. Epub 2017 Feb 8.

Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, Saint Louis, Missouri, 63110, USA.

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http://dx.doi.org/10.1002/mus.25442DOI Listing
July 2017

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy.

Neurology 2016 Nov 26;87(20):2123-2131. Epub 2016 Aug 26.

From the University of Rochester Medical Center (R.C.G., R.T.M., S.P.), NY; Washington University in St Louis (J.P.M., A.P., J.M.F.), MO; University of Manitoba and Children's Hospital Research Institute of Manitoba (C.R.G.), Winnipeg; Department of Paediatrics (D.L.F.), Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Canada; Nationwide Children's Hospital (J.R.M.); Ohio State University Wexner Medical Center (W.K., J.T.K.), Columbus; Muscular Dystrophy Association (V.C.), Marlton, NJ; CHU Sainte Justine (M.V.), Montreal, Canada; and Marathon Pharmaceuticals, LLC (J.S.D., J.M.M.), Northbrook, IL.

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http://dx.doi.org/10.1212/WNL.0000000000003217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109941PMC
November 2016

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Neurol Genet 2016 Aug 4;2(4):e89. Epub 2016 Aug 4.

The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital

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http://dx.doi.org/10.1212/NXG.0000000000000089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994875PMC
August 2016

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Neurology 2016 Apr 10;86(15):1408-1416. Epub 2016 Feb 10.

From NEMO Clinical Center (V.A.S.) and IRCCS Policlinico San Donato (G.M.), University of Milan, Italy; MRC Centre for Neuromuscular Diseases (J.B., M.G.H.), UCL Institute of Neurology, Queen Square, London, UK; University of Rochester (M.P.M., P.C.S., B.H., R.T., S.P., E.C., R.C.G.), NY; Ohio State University (J.K.), Columbus; UCLA Medical Center (P.S.), Los Angeles, CA; University of California San Francisco School of Medicine (J.W.R.); Brigham and Women's Hospital (A.A.), Boston, MA; UT Southwestern Medical Center (S.C.C., J.T.), Dallas, TX; University of Kansas Medical Center (R.B.), Kansas City; Mayo Clinic (B.C.), Rochester MN; Columbia University (H.M.), New York, NY; Washington University (A.P.), St. Louis, MO; and the Office of Clinical Research (R.C.), NINDS, Bethesda, MD.

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http://dx.doi.org/10.1212/WNL.0000000000002416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831040PMC
April 2016

A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression.

Neurology 2016 Apr 24;86(16):1474-81. Epub 2016 Feb 24.

From the Department of Neurology (M.D.W., J.B.D.), University of Washington Medical Center, Seattle; Biostatistics Center (E.A.M.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Neurology (Z.S.), Penn State Hershey Medical Center, Hershey, PA; Department of Neurology (A.S.K., N.A., M.E.C.), Neurological Clinical Research Institute, Massachusetts General Hospital, Boston; Program in Pharmacology and Experimental Therapeutics (D.J.G.), Tufts University School of Medicine, Boston, MA; Department of Neurology (M.G., N.P.), UCLA Medical Center, Los Angeles, CA; Department of Neurology (J.S.S., C.Q., R.H.B.), University of Massachusetts Memorial Medical Center, Worcester; Department of Neurology (J.T.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (J.M.S.), Barrow Neurological Institute, Phoenix, AZ; Department of Neurology (R.J.B.), University of Kansas Medical Center, Kansas City; Department of Neurology (A.P.), Washington University Medical Center, St. Louis, MO; and Department of Neurology (A.S.), University of Iowa Hospitals and Clinics, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000002507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836879PMC
April 2016

Nerve ultrasound identifies abnormalities in the posterior interosseous nerve in patients with proximal radial neuropathies.

Muscle Nerve 2016 Mar 29;53(3):379-83. Epub 2015 Dec 29.

Department of Neurology, 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.24778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925758PMC
March 2016

Myelinated and unmyelinated endoneurial axon quantitation and clinical correlation.

Muscle Nerve 2016 Feb 8;53(2):198-204. Epub 2015 Aug 8.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/mus.24740DOI Listing
February 2016

Bicaudate infarcts in the setting of congenital absence of A segment.

Neurol Clin Pract 2015 Dec;5(6):540-541

Department of Neurology (PT-F, SGK), Mallinckrodt Institute of Radiology (NY-F-A), and Departments of Neurology, Pathology, and Immunology (AP), Washington University, St. Louis, MO.

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http://dx.doi.org/10.1212/CPJ.0000000000000163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684675PMC
December 2015

Dystrophinopathy mimicking metabolic myopathies.

Neuromuscul Disord 2015 Aug 11;25(8):653-7. Epub 2015 Apr 11.

Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1016/j.nmd.2015.04.001DOI Listing
August 2015

Myopathy with anti-HMGCR antibodies: Perimysium and myofiber pathology.

Neurol Neuroimmunol Neuroinflamm 2015 Aug 4;2(4):e124. Epub 2015 Jun 4.

Department of Neurology (A.A., R.C., R.B., A.P.) and Department of Pathology and Immunology (A.P.), Washington University School of Medicine, Saint Louis, MO.

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http://dx.doi.org/10.1212/NXI.0000000000000124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459046PMC
August 2015

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Neurology 2015 Aug 24;85(8):665-74. Epub 2015 Jul 24.

From the Department of Neurology (R.C.B., K.A., A.P., S.K.P., M.B.H., C.C.W.), Washington University School of Medicine, Saint Louis, MO; Dent Neurologic Institute (L.R.), Amherst, NY; Department of Neurogenetics (C.M.S.), Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, New South Wales, Australia; Folkhalsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., B.U.), Haartman Institute, University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000001864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553032PMC
August 2015

Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity.

JIMD Rep 2015 13;23:113-22. Epub 2015 May 13.

Department of Medicine, Division of Geriatrics and Nutritional Sciences, Washington University School of Medicine, 660 S. Euclid Ave, Box 8031, St. Louis, MO, 63110, USA.

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http://dx.doi.org/10.1007/8904_2015_440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484911PMC
June 2015

Myovascular innervation: axon loss in small-fiber neuropathies.

Muscle Nerve 2015 Apr 24;51(4):514-21. Epub 2015 Feb 24.

Department of Neurology, Washington University School of Medicine in St. Louis, 660 South Euclid Avenue, Box 8111, St. Louis, Missouri, 63110, USA.

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http://doi.wiley.com/10.1002/mus.24356
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http://dx.doi.org/10.1002/mus.24356DOI Listing
April 2015

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Neuromuscul Disord 2015 Apr 6;25(4):289-96. Epub 2015 Jan 6.

Department of Neurology, Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO 63110, United States.

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http://dx.doi.org/10.1016/j.nmd.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372452PMC
April 2015

A genome-wide association study of myasthenia gravis.

JAMA Neurol 2015 Apr;72(4):396-404

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland11Department of Neurology, Johns Hopkins School of Medicine, Baltimore, M.

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http://www.viverelamiastenia.it/file/JAMA%20Neurology_MG%20G
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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2014.4103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856525PMC
April 2015

Autophagic vacuolar pathology in desminopathies.

Neuromuscul Disord 2015 Mar 12;25(3):199-206. Epub 2014 Dec 12.

Department of Neurology and Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO, USA.

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http://dx.doi.org/10.1016/j.nmd.2014.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355324PMC
March 2015

Regional ischemic immune myopathy: a paraneoplastic dermatomyopathy.

J Neuropathol Exp Neurol 2014 Dec;73(12):1126-33

From the Departments of Pathology and Immunology (CC, AP), and Neurology (AA, RC, AP), Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1097/NEN.0000000000000132DOI Listing
December 2014

Nerve size in chronic inflammatory demyelinating neuropathy varies with disease activity and therapy response over time: a retrospective ultrasound study.

Muscle Nerve 2014 Nov 3;50(5):733-8. Epub 2014 Sep 3.

Department of Neurology, 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.24227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143488PMC
November 2014

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.

JAMA Neurol 2014 Apr;71(4):449-53

Department of Neurology, Washington University School of Medicine, St Louis, Missouri7Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamaneurol.2013.6237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4087113PMC
April 2014

Ultrasound of inherited vs. acquired demyelinating polyneuropathies.

J Neurol 2013 Dec 8;260(12):3115-21. Epub 2013 Oct 8.

Department of Neurology, Washington University School of Medicine, 660 S. Euclid Ave, Box 8111, St. Louis, MO, 63110, USA,

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http://dx.doi.org/10.1007/s00415-013-7123-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970398PMC
December 2013

Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology.

Muscle Nerve 2013 Nov 11;48(5):722-6. Epub 2013 Sep 11.

Washington University School of Medicine, Department of Neurology, 660 S. Euclid Avenue, Box 8111, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/mus.23837DOI Listing
November 2013

Multifocal radiculoneuropathy during ipilimumab treatment of melanoma.

Muscle Nerve 2013 Sep 27;48(3):440-4. Epub 2013 Jul 27.

Department of Neurology Washington University School of Medicine, 600 South Euclid Avenue, St. Louis, Missouri, 63110, USA.

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http://dx.doi.org/10.1002/mus.23830DOI Listing
September 2013

Cramps and small-fiber neuropathy.

Muscle Nerve 2013 Aug 28;48(2):252-5. Epub 2013 Jun 28.

Department of Neurology, Division of Neuromuscular Disease, Washington University School of Medicine, Campus Box 8111, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.

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http://doi.wiley.com/10.1002/mus.23757
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http://dx.doi.org/10.1002/mus.23757DOI Listing
August 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

Detection of peripheral nerve pathology: comparison of ultrasound and MRI.

Neurology 2013 Apr 3;80(18):1634-40. Epub 2013 Apr 3.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182904f3fDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214100PMC
April 2013

Newborn brachial plexus palsy: evaluation of severity using quantitative ultrasound of muscle.

Muscle Nerve 2013 Feb 21;47(2):246-54. Epub 2012 Nov 21.

Department of Neurology, 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.23518DOI Listing
February 2013

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

Mol Genet Metab 2012 Nov 17;107(3):456-61. Epub 2012 Sep 17.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center-University Hospital Sophia Children's Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.

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http://www.neuromuscular.ru/project/www.neuromuscular.ru/fil
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http://linkinghub.elsevier.com/retrieve/pii/S109671921200356
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2012.09.015DOI Listing
November 2012

Clinical and laboratory features of neuropathies with serum IgM binding to TS-HDS.

Muscle Nerve 2012 Jun;45(6):866-72

Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://doi.wiley.com/10.1002/mus.23256
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http://dx.doi.org/10.1002/mus.23256DOI Listing
June 2012

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Ann Neurol 2012 Mar 14;71(3):407-16. Epub 2012 Feb 14.

Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/ana.22683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314127PMC
March 2012

Acquired immune and inflammatory myopathies: pathologic classification.

Authors:
Alan Pestronk

Curr Opin Rheumatol 2011 Nov;23(6):595-604

Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA.

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http://dx.doi.org/10.1097/BOR.0b013e32834bab42DOI Listing
November 2011

Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency.

Muscle Nerve 2011 Sep 13;44(3):418-23. Epub 2011 Jul 13.

Department of Neurology, 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.22088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193541PMC
September 2011

Skeletal muscle abnormalities and genetic factors related to vertical talus.

Clin Orthop Relat Res 2011 Apr 20;469(4):1167-74. Epub 2010 Jul 20.

Departments of Orthopaedic Surgery, Washington University School of Medicine, 1 Children's Place, Suite 4S-60, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1007/s11999-010-1475-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048242PMC
April 2011

Inflammatory demyelinating neuropathies.

Curr Treat Options Neurol 2011 Apr;13(2):131-42

Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8111, St. Louis, MO, 63110, USA,

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http://dx.doi.org/10.1007/s11940-011-0114-0DOI Listing
April 2011

Novel GNE mutations in two phenotypically distinct HIBM2 patients.

Neuromuscul Disord 2011 Feb 4;21(2):102-5. Epub 2010 Dec 4.

Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S. Euclid Avenue, Saint Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.nmd.2010.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030125PMC
February 2011

Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophy.

Neuromuscul Disord 2010 Dec;20(12):805-9

Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.nmd.2010.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991397PMC
December 2010

Mitochondrial pathology in immune and inflammatory myopathies.

Curr Opin Rheumatol 2010 Nov;22(6):651-7

Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA.

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http://dx.doi.org/10.1097/BOR.0b013e32833f108aDOI Listing
November 2010

Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers.

Curr Opin Neurol 2010 Oct;23(5):482-8

Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S. Euclid Avenue, Saint Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1097/WCO.0b013e32833d3897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606555PMC
October 2010

Vascular pathology in dermatomyositis and anatomic relations to myopathology.

Muscle Nerve 2010 Jul;42(1):53-61

Department of Neurology, 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.21651DOI Listing
July 2010

Motor neuropathies and serum IgM binding to NS6S heparin disaccharide or GM1 ganglioside.

J Neurol Neurosurg Psychiatry 2010 Jul;81(7):726-30

Department of Neurology, Washington University in St Louis School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1136/jnnp.2009.202796DOI Listing
July 2010

Peripheral nerve size in normals and patients with polyneuropathy: an ultrasound study.

Muscle Nerve 2009 Dec;40(6):960-6

Washington University School of Medicine, Department of Neurology, 660 S. Euclid Avenue, Box 8111, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/mus.21431DOI Listing
December 2009

Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.

Circ Cardiovasc Genet 2009 Dec 30;2(6):544-51. Epub 2009 Sep 30.

Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital; College of Nursing, The Ohio State University, Columbus, Ohio, USA.

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https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.109.867
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http://dx.doi.org/10.1161/CIRCGENETICS.109.867242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826810PMC
December 2009

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.

Muscle Nerve 2009 Nov;40(5):883-9

Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW-514, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1002/mus.21432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862182PMC
November 2009

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.

Neuromuscul Disord 2009 May 19;19(5):308-15. Epub 2009 Apr 19.

Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.nmd.2009.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859037PMC
May 2009

Inflammatory myopathies with mitochondrial pathology and protein aggregates.

J Neurol Sci 2009 Mar 20;278(1-2):25-9. Epub 2008 Dec 20.

Celal Bayar University School of Medicine, Department of Pathology, Manisa, 45010, Turkey.

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http://dx.doi.org/10.1016/j.jns.2008.11.010DOI Listing
March 2009

Clinical features of late-onset Pompe disease: a prospective cohort study.

Muscle Nerve 2008 Oct;38(4):1236-45

Universitair Medisch Centrum Utrecht HP G03.228, Heidelberglaan 100, 3584 CX Utrecht, Netherlands.

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http://dx.doi.org/10.1002/mus.21025DOI Listing
October 2008

Calibrated quantitative ultrasound imaging of skeletal muscle using backscatter analysis.

Muscle Nerve 2008 Jul;38(1):893-8

Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/mus.21052DOI Listing
July 2008

Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes.

Muscle Nerve 2007 Jul;36(1):107-10

Department of Neurology, Washington University in St. Louis, Box 8111, 660 South Euclid Avenue, St. Louis, Missouri, USA.

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http://doi.wiley.com/10.1002/mus.20755
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July 2007

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Arch Neurol 2007 Jul;64(7):998-1000

Department of Neurology, Washington University School of Medicine, PO Box 8111, 660 S Euclid Ave, St Louis, MO 63110, USA.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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July 2007

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.

Hum Mol Genet 2007 Apr 28;16(8):919-28. Epub 2007 Feb 28.

Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Saint Louis, MO 63110, USA.

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http://academic.oup.com/hmg/article/16/8/919/552917/Transgen
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http://dx.doi.org/10.1093/hmg/ddm037DOI Listing
April 2007

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

J Neurosci 2007 Jan;27(2):422-30

Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.4798-06.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672077PMC
January 2007

The muscle protein dysferlin accumulates in the Alzheimer brain.

Acta Neuropathol 2006 Dec 6;112(6):665-71. Epub 2006 Oct 6.

Alzheimer Disease Research Center, Washington University School of Medicine, 4488 Forest Park, Suite 130, St Louis, MO 63108, USA.

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http://dx.doi.org/10.1007/s00401-006-0147-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1705477PMC
December 2006

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy.

Neurology 2006 Aug 14;67(3):500-1. Epub 2006 Jun 14.

Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1212/01.wnl.0000231139.26253.d0DOI Listing
August 2006

An unusual pathologic feature associated with dermatomyositis.

Neuromuscul Disord 2006 Jun 11;16(6):391-3. Epub 2006 May 11.

Department of Neurology, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.nmd.2006.03.013DOI Listing
June 2006

Peripheral neuropathy in an outpatient cohort of patients with Sjögren's syndrome.

Muscle Nerve 2006 May;33(5):672-6

Department of Neurology Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/mus.20514DOI Listing
May 2006

Brachio-cervical inflammatory myopathies: clinical, immune, and myopathologic features.

Arthritis Rheum 2006 May;54(5):1687-96

Washington University School of Medicine, Department of Neurology, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/art.21822DOI Listing
May 2006

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.

Hum Mol Genet 2006 Jan 1;15(2):189-99. Epub 2005 Dec 1.

Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1093/hmg/ddi426DOI Listing
January 2006

Treatment of chronic inflammatory demyelinating polyneuropathy with high-dose intermittent intravenous methylprednisolone.

Arch Neurol 2005 Feb;62(2):249-54

Washington University School of Medicine, Department of Neurology, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1001/archneur.62.2.249DOI Listing
February 2005