Publications by authors named "Carsten G Bonnemann"

100Publications

PIEZO2 in sensory neurons and urothelial cells coordinates urination.

Nature 2020 Oct 14. Epub 2020 Oct 14.

Howard Hughes Medical Institute, Department of Neuroscience, Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, CA, USA.

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http://dx.doi.org/10.1038/s41586-020-2830-7DOI Listing
October 2020

250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands.

Neuromuscul Disord 2020 Oct 15;30(10):866-875. Epub 2020 Aug 15.

Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.08.356DOI Listing
October 2020

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.

Front Mol Neurosci 2020 5;13:123. Epub 2020 Aug 5.

Dubowitz Neuromuscular Centre, Institute of Child Health, Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.3389/fnmol.2020.00123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419697PMC
August 2020

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients.

Neuromuscul Disord 2020 Sep 24;30(9):742-749. Epub 2020 Jul 24.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.07.001DOI Listing
September 2020

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Neurology 2020 09 13;95(11):e1512-e1527. Epub 2020 Aug 13.

From the Basic and Translational Myology Lab (R.N.V.-Q., V.G., A.F.), UMR8251, Université de Paris/CNRS; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (R.N.V.-Q., B. Eymard, N.B.R., A.F.) and Neuromuscular Morphology Unit (N.B.R., M.F.), Institut de Myologie, Pitié-Salpêtrière Hospital, AP-HP, Paris, France; Department of Paediatric Neurology (M.v.d.H.), Medinzinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany; AP-HP (C.M., P.R.), Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, GH Pitié-Salpêtrière, Paris; Department of Neurology (V.G.), University Hospital of Montpellier, France; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesu' Children's Research Hospital, Rome, Italy; Departamento de Neurología Pediátrica (C.C.), Clínica Las Condes, Santiago, Chile; Paediatrics Department (D.C.), Hôpital de Hautepierre, Strasbourg, France; Neuromuscular Unit (J.C.), Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER) (J.C.), ISCIII; Department of Neurology (M.L.C.), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos; Department of Medicine (M.L.C.), Universidad Complutense de Madrid, Spain; Department of Neurology (M.d.V.), Amsterdam University Medical Centre, Amsterdam Neuroscience, the Netherlands; Department of Pediatric Neurology (I.D.), Necker Enfants Malades Hospital, Paris Descartes University, France; Department of Child Neurology (N.G.), University Hospitals Leuven, Belgium; Department of Pediatric Neurology (A.K.), Center for Chronically Sick Children, Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics (E.L.), CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, France; Department of Neuropediatrics (J.L.), University Children's Hospital of Basel (UKBB), Switzerland; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (E.M.), Neurology Department, Raymond-Poincaré Hospital, AP-HP, Garches; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (M.M.), Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Biomedical and Neuromotor Sciences (L.M.), University of Bologna, Italy; Réanimation Médicale, Physiologie-Explorations Fonctionnelles et Centre d'Investigation Clinique, UMR 1429 (D.O.), INSERM-UMR, 1179, UVSQ (D.O.), and Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, AP-HP, UVSQ Paris Saclay (B. Estournet, S.Q.-R.), Hôpital Raymond Poincaré, Garches, France; Department of Neurology (U.R.), Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, German; Division of Pediatric Neurology, Department of Pediatrics (M.A.S.), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Friedrich-Baur-Institut (B.S.-W.), Department of Neurology, Ludwig-Maximilians-University of Munich; Department of Pediatric Neurology (M.S.), University of Tübingen, Germany; The John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, UK; Department of Child Neurology (H.T.), Hacettepe University, School of Medicine, Ankara, Turkey; Centre de Compétence Neuromusculaire (J.A.U.), Hôpital Marin, Hendaye, France; Department of Neurology (A.v.d.K.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, the Netherlands; Pediatrics and Adolescent Medicine, Division of Pediatric Neurology (E.W.), University Medical Center Göttingen, Georg-August University Göttingen, Germany; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Pediatric Neurology (U.S.), Developmental Neurology and Social Pediatrics, University of Essen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000010327DOI Listing
September 2020

A long-read RNA-seq approach to identify novel transcripts of very large genes.

Genome Res 2020 06 6;30(6):885-897. Epub 2020 Jul 6.

Center for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, D.C. 20010, USA.

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http://dx.doi.org/10.1101/gr.259903.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7370890PMC
June 2020

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.

Mol Ther Nucleic Acids 2020 Sep 1;21:205-216. Epub 2020 Jun 1.

NIHR Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK; Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2020.05.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7321786PMC
September 2020

Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry.

J Neurosci Nurs 2020 Aug;52(4):172-178

Joshua J. Todd, PhD, is Research Fellow, National Institute of Nursing Research, NIH, Bethesda, MD. Jeffrey S. Elliott, BS, is Post-Baccalaureate Fellow, National Institute of Nursing Research, NIH, Bethesda, MD. Melody M. Linton, BS, is Post-Baccalaureate Fellow, National Institute of Nursing Research, NIH, Bethesda, MD. Megan Andres, BS, is Post-Baccalaureate Fellow, National Institute of Nursing Research, NIH, Bethesda, MD. Jessica W. Witherspoon, DPT, PhD, is Research Fellow, National Institute of Nursing Research, NIH, Bethesda, MD. John P. Collins, MD, PhD, is Assistant Professor, Mark O. Hatfield Clinical Research Center, NIH, Bethesda, MD; and Department of Rehabilitation Science, George Mason University, Fairfax, VA. Irene C. Chrismer, BSN, is Research Nurse, National Institute of Nursing Research, NIH, Bethesda, MD. Fatoumata Tounkara, PhD, is Post-Baccalaureate Fellow, National Institute of Nursing Research, NIH, Bethesda, MD. Melissa R. Waite, MSPT, is Physical Therapist, Mark O. Hatfield Clinical Research Center, NIH, Bethesda, MD. Carmel Nichols, BA, is Post-Baccalaureate Fellow, Mark O. Hatfield Clinical Research Center, NIH, Bethesda, MD. Carsten G. Bönnemann, MD, is Neurologist, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD. Carole Vuillerot, MD, PhD, is Pediatrician, Service de Médecine Physique et de Réadaptation Pédiatrique, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Bron, France. Roxanna Bendixen, PhD, is Associate Professor, Department of Occupational Therapy, University of Pittsburgh, Pittsburgh, PA. Minal S. Jain, DSc, is Physical Therapist, Mark O. Hatfield Clinical Research Center, NIH, Bethesda, MD. Katherine G. Meilleur, PhD, is Pediatric Nurse Practitioner, National Institute of Nursing Research, NIH, Bethesda, MD.

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http://dx.doi.org/10.1097/JNN.0000000000000519DOI Listing
August 2020

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.

Neuromuscul Disord 2020 05 16;30(5):360-367. Epub 2020 Apr 16.

Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7292757PMC
May 2020

Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies.

Dis Model Mech 2020 Jun 26;13(6). Epub 2020 Jun 26.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA

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http://dx.doi.org/10.1242/dmm.042986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328151PMC
June 2020

Hypoglycemia in patients with congenital muscle disease.

BMC Pediatr 2020 02 6;20(1):57. Epub 2020 Feb 6.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 2B 39, MSC 1477, 10 Center Drive, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1186/s12887-020-1909-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7006143PMC
February 2020

Randomized controlled trial of -acetylcysteine therapy for -related myopathies.

Neurology 2020 03 15;94(13):e1434-e1444. Epub 2020 Jan 15.

From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000008872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274912PMC
March 2020

Muscular dystrophies.

Lancet 2019 11;394(10213):2025-2038

Dubowitz Neuromuscular Centre, University College London, 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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http://dx.doi.org/10.1016/S0140-6736(19)32910-1DOI Listing
November 2019

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscul Disord 2019 11 16;29(11):827-841. Epub 2019 Sep 16.

Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.011DOI Listing
November 2019

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Neurology 2019 11 25;93(21):e1932-e1943. Epub 2019 Oct 25.

From the Rehabilitation Medicine Department (M.S.J., M.W., R.V., R.L., C.N.), Clinical Research Center, Neuromuscular Symptoms Unit (K.M., I.C., M.L., M.P., J.E., F.T., J.W.), Tissue Injury Branch, National Institute of Nursing Research, Clinical Trials Unit (E.K., G.N.) and Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., M.L., E.H., G.M.A., A.K., A.S., K.Z., P.M., D.B.-G., A.R.F., C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, and Pulmonary Branch (M.B., J.F., P.M.), National Heart, Lung, and Blood Institute, NIH, Bethesda, MD; Departments of Physical Therapy (L.N.) and Clinical Sciences (L.H.), University of Texas Southwestern, Dallas; Occupational Therapy and Physical Therapy Department (M. McGuire, J.C.C.), Cincinnati Children's Hospital Medical Center, OH; Pediatric Rehabilitation Medicine Department (T.D.), Children's National Medical Center, Washington, DC; Physical Therapy Department (K.K.), Rady's Children Hospital, San Diego, CA; Department of Physical Therapy (D.J.L.), University of Florida, Gainesville; Physical Therapy Department (A.G.), Children's Hospital of Philadelphia, PA; Paediatric Gait Analysis Laboratory of New South Wales (K.R.), The Children's Hospital at Westmead, Sydney, Australia; Dubowitz Neuromuscular Centre (M. Main), Great Ormond Street Hospital for Children, London, UK; Department of Physical Therapy (C.F.), Kennedy Krieger Institute, Baltimore, MD; G.H. Sergievsky Center and Department of Neurology (R.F., V.H.), Columbia University, New York, NY; Goryeb Children's Hospital (J.D.), Morristown, NJ; CureCMD (E.S.K., A.R.), Torrance, CA; and L'Escale Service Central de MPR pédiatrique (C.V.), Hospices Civils de Lyon, France

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http://dx.doi.org/10.1212/WNL.0000000000008517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885579PMC
November 2019

Adult -related myopathy carriers: Classification based on deep phenotyping.

Neurology 2019 10 20;93(16):e1535-e1542. Epub 2019 Sep 20.

From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.

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http://dx.doi.org/10.1212/WNL.0000000000008316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815204PMC
October 2019

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

J Neuromuscul Dis 2019 ;6(4):475-483

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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https://www.medra.org/servlet/aliasResolver?alias=iospress&a
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http://dx.doi.org/10.3233/JND-190414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522968PMC
April 2020

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.

Neuromuscul Disord 2019 08 13;29(8):644-650. Epub 2019 Jul 13.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.nmd.2019.07.002DOI Listing
August 2019

MuscleViz: Free Open-Source Software for Muscle Weakness Visualization.

J Neuromuscul Dis 2019 ;6(2):263-266

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/JND-190385DOI Listing
December 2019

The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.

Semin Pediatr Neurol 2019 04 16;29:44-54. Epub 2019 Jan 16.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2019.01.001DOI Listing
April 2019

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 08 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://link.springer.com/10.1007/s10048-019-00578-1
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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G.

Neurol Genet 2019 Apr 1;5(2):e315. Epub 2019 Mar 1.

University of Iowa (A.J.L.), Carver College of Medicine; Department of Pathology (K.A.J., M.O.C., S.A.M.), University of Iowa; Departments of Pediatrics and Neurology (R.J.B.), University of Utah; Department of Neurology (C.G.K.), University of California San Diego; Department of Neurology (C.G.), Gillette Children's Specialty Healthcare; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's; Department of Neurology (B.B.), Integris Southwest Medical Center; Departments of Pediatrics and Neurology (C.W.), Driscoll Children's Hospital; Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, University of Toronto; Departments of Pediatrics and Neurology (M.A.G., J.S.J.), University of Colorado; Department of Physical Medicine and Rehabilitation (A.B.), University of Colorado; Department of Neurosciences (R.T.L.), University of California San Diego; National Institutes of Health (S.D., C.G.B.), Institute of Neurological Disorders and Stroke; Department of Pathology (D.M.M.), University of California San Diego; Department of Human Genetics (R.B.W.), University of Utah; and Departments of Pediatrics and Neurology (K.D.M.), University of Iowa.

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http://dx.doi.org/10.1212/NXG.0000000000000315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454397PMC
April 2019

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Ann Neurol 2019 07 17;86(1):129-142. Epub 2019 May 17.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25494
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http://dx.doi.org/10.1002/ana.25494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685440PMC
July 2019

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 04 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616346PMC
April 2019

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Neurol Neuroimmunol Neuroinflamm 2019 01 12;6(1):e523. Epub 2018 Dec 12.

National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.

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http://dx.doi.org/10.1212/NXI.0000000000000523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292490PMC
January 2019

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.

Dis Model Mech 2018 12 19;11(12). Epub 2018 Dec 19.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA

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http://dmm.biologists.org/lookup/doi/10.1242/dmm.035931
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http://dx.doi.org/10.1242/dmm.035931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307911PMC
December 2018

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Muscle Nerve 2019 03 28;59(3):357-362. Epub 2018 Nov 28.

Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

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http://doi.wiley.com/10.1002/mus.26378
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http://dx.doi.org/10.1002/mus.26378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288247PMC
March 2019

Extracellular matrix-driven congenital muscular dystrophies.

Matrix Biol 2018 10 19;71-72:188-204. Epub 2018 Jun 19.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2018.06.005DOI Listing
October 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

The genetics of congenital myopathies.

Handb Clin Neurol 2018 ;148:549-564

Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804446407650
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http://dx.doi.org/10.1016/B978-0-444-64076-5.00036-3DOI Listing
August 2018

Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge.

JAMA Neurol 2018 05;75(5):539-540

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamaneurol.2017.3068DOI Listing
May 2018

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Ann Neurol 2018 01;83(1):153-165

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

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http://doi.wiley.com/10.1002/ana.25130
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http://dx.doi.org/10.1002/ana.25130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876123PMC
January 2018

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.

PLoS One 2017 15;12(12):e0189664. Epub 2017 Dec 15.

University of Utah, Department of Human Genetics, Salt Lake City, Utah, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189664PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731705PMC
January 2018

Early and lethal neurodegeneration with myasthenic and myopathic features: A new -CDG.

Neurology 2017 Aug 21;89(7):657-664. Epub 2017 Jul 21.

From the Division of Neuropaediatrics and Muscle Disorders (D.C.S., R.K., M. Beytia, J.K.) and Center of Pediatric and Adolescent Medicine (M.K.), Faculty of Medicine, Medical Center, University of Freiburg; Department of Human Genetics (S.R., C.R.M., M. Beytia), Biozentrum, University of Würzburg, Germany; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior (D.J.L.), and Radboud Center for Mitochondrial Medicine, Department of Pediatrics (R.J.R.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (Neuromuscular and Neurometabolic Disorders) (L.B., M.T.), McMaster Children's Hospital, Hamilton, Canada; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Child Neurology (M. Bugiani, M.v.d.K.) and Pathology (M. Bugiani), VU University Medical Center; and Department of Functional Genomics (M.v.d.K.), VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000004234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562963PMC
August 2017

Congenital Muscular Dystrophies and Myopathies: An Overview and Update.

Neuropediatrics 2017 08 2;48(4):247-261. Epub 2017 Jul 2.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1055/s-0037-1604154DOI Listing
August 2017

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.

Neuropediatrics 2017 10 19;48(5):371-377. Epub 2017 Jun 19.

Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1055/s-0037-1603977DOI Listing
October 2017

HSP and deafness: Neurocristopathy caused by a novel mosaic mutation.

Neurol Genet 2017 Jun 15;3(3):e151. Epub 2017 May 15.

Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., D.B.-G., P.Y., Y.H., P.M., D.E., A.R.F., C.G.B.), and National Eye Institute (W.M.Z.), National Institutes of Health, Bethesda, MD; Children's National Medical Center (D.B.-G.), Washington, DC; Department of Neurology (A.H.), The Johns Hopkins University School of Medicine, Baltimore, MD; Children's Mercy Hospital (A.M.A., A.C.M.), Kansas City, MO; and Department of Neurology (M.D.), University of Kansas Medical Center, Kansas City, KS.

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http://dx.doi.org/10.1212/NXG.0000000000000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432370PMC
June 2017

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016.

Neuromuscul Disord 2017 04 16;27(4):396-407. Epub 2017 Jan 16.

Unité de Biologie Fonctionnelle et Adaptative, Université Paris Diderot/CNRS, France; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, AP-HP, France.

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http://dx.doi.org/10.1016/j.nmd.2017.01.009DOI Listing
April 2017

Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.

Muscle Nerve 2017 Dec 25;56(6):1177-1181. Epub 2017 Apr 25.

Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Building 50, Room 1146, Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1002/mus.25567DOI Listing
December 2017

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.

Cardiol Young 2017 Aug 12;27(6):1076-1082. Epub 2016 Dec 12.

6Sorbonne Universités,UPMC Univ Paris 06,Inserm UMRS974,CNRS FRE3617,Center for Research in Myology,Paris,France.

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http://dx.doi.org/10.1017/S1047951116002079DOI Listing
August 2017

The Role of PIEZO2 in Human Mechanosensation.

N Engl J Med 2016 10 21;375(14):1355-1364. Epub 2016 Sep 21.

From the National Center for Complementary and Integrative Health (A.T.C., M.S., M.C., C.L.), the National Institute of Neurological Disorders and Stroke (D.B.-G., S.D., L.H.H., N.B., D.N., A.R.F., C.E.L.P., C.G.B.), and the Functional and Applied Biomechanics Section, Rehabilitation Medicine Department, Clinical Center (K.A., C.Z., C.S.), National Institutes of Health, Bethesda, MD; the Division of Neurology, Children's National Health System, Washington, DC (D.B.-G.); the Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and the Department of Clinical Neurosciences and Department of Pediatrics, Alberta Children's Hospital Research Institute (J.K.M.), University of Calgary, Calgary, Canada; and the Departments of Neurosciences and Pediatrics, School of Medicine, University of California, San Diego, Rady Children's Hospital, San Diego, CA (C.M.G.).

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http://dx.doi.org/10.1056/NEJMoa1602812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911918PMC
October 2016

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

Dis Model Mech 2016 11 4;9(11):1257-1269. Epub 2016 Aug 4.

Department of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, UT 84112, USA

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http://dx.doi.org/10.1242/dmm.025874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117227PMC
November 2016

Next-generation sequencing still needs our generation's clinicians.

Neurol Genet 2015 Aug 13;1(2):e13. Epub 2015 Aug 13.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807906PMC
August 2015

Tyrosine 705 Phosphorylation of STAT3 Is Associated with Phenotype Severity in TGFβ1 Transgenic Mice.

Biomed Res Int 2015 24;2015:843743. Epub 2015 Aug 24.

Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA ; Department of Integrative Systems Biology and Department of Pediatrics, George Washington University, 2121 I Street Northwest, Washington, DC 20052, USA.

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http://dx.doi.org/10.1155/2015/843743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561300PMC
June 2016

Electrical impedance myography discriminates congenital muscular dystrophy from controls.

Muscle Nerve 2016 Mar 13;53(3):402-6. Epub 2015 Aug 13.

Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, CRC Room 7SW-5680, 10 Center Drive MSC 1404, Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1002/mus.24770DOI Listing
March 2016

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

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

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

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000141
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http://dx.doi.org/10.1212/WNL.0000000000001416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4388744PMC
March 2015

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

Neurology 2015 Apr 13;84(14):1495-7. Epub 2015 Mar 13.

From the National Institutes of Health (D.X.B.-G., S.D., E.A.W., C.G.B.), Bethesda, MD; Children's National Medical Center (D.X.B.-G.), Washington, DC; CS Mott Children's Hospital (E.N.), University of Michigan, Ann Arbor; Columbia University Medical Center (J.D.), New York, NY; Prevention Genetics (T.L.W.), Marshfield, WI; University of Iowa (S.A.M.), Iowa City; and University of Texas Southwestern Medical Center Dallas (S.T.I.), Dallas, TX. Dr. Winder is currently with Invitae Corp., San Francisco, CA.

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http://dx.doi.org/10.1212/WNL.0000000000001440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395885PMC
April 2015

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Brain 2015 Feb 31;138(Pt 2):246-68. Epub 2014 Dec 31.

2 National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Centre, Bethesda, MD, USA

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http://dx.doi.org/10.1093/brain/awu368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306824PMC
February 2015

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.

J Biol Chem 2014 Oct 19;289(41):28138-48. Epub 2014 Aug 19.

From the Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242-1101,

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http://dx.doi.org/10.1074/jbc.M114.597831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192470PMC
October 2014