James J Dowling

James J Dowling

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James J Dowling

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Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.

Hum Mol Genet 2019 Nov 6. Epub 2019 Nov 6.

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1093/hmg/ddz260DOI Listing
November 2019

Mouse model of severe recessive RYR1-related myopathy.

Hum Mol Genet 2019 09;28(18):3024-3036

Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA.

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http://dx.doi.org/10.1093/hmg/ddz105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737254PMC
September 2019

Failure to identify modifiers of -related nemaline myopathy in two pre-clinical models of the disease.

Biol Open 2019 Sep 18;8(9). Epub 2019 Sep 18.

Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada

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http://dx.doi.org/10.1242/bio.044867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777365PMC
September 2019

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 Aug 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

The expanding spectrum of neurological disorders of phosphoinositide metabolism.

Dis Model Mech 2019 08 13;12(8). Epub 2019 Aug 13.

Division of Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada

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http://dx.doi.org/10.1242/dmm.038174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737944PMC
August 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 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

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

Signs and Symptoms in Congenital Myopathies.

Semin Pediatr Neurol 2019 Apr 16;29:3-11. Epub 2019 Jan 16.

Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2019.01.002DOI Listing
April 2019

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Am J Hum Genet 2019 Mar 28;104(3):466-483. Epub 2019 Feb 28.

Division of Neurology, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193001
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http://dx.doi.org/10.1016/j.ajhg.2019.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407525PMC
March 2019

Tamoxifen therapy in a murine model of myotubular myopathy.

Nat Commun 2018 11 19;9(1):4849. Epub 2018 Nov 19.

Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON, CAN M5G 0A4, Canada.

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http://www.nature.com/articles/s41467-018-07057-5
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http://dx.doi.org/10.1038/s41467-018-07057-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242823PMC
November 2018

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.

Neurotherapeutics 2018 10;15(4):966-975

Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.

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http://link.springer.com/10.1007/s13311-018-00686-0
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http://dx.doi.org/10.1007/s13311-018-00686-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277281PMC
October 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

Uniparental disomy unveils a novel recessive mutation in POMT2.

Neuromuscul Disord 2018 07 10;28(7):592-596. Epub 2018 Apr 10.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183005
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http://dx.doi.org/10.1016/j.nmd.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115279PMC
July 2018

Treating pediatric neuromuscular disorders: The future is now.

Am J Med Genet A 2018 Apr 10;176(4):804-841. Epub 2017 Sep 10.

Department of Pediatrics, Clinical Neurological Sciences, Epidemiology, Western University, London, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38418
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http://dx.doi.org/10.1002/ajmg.a.38418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900978PMC
April 2018

Malignant Hyperthermia Susceptibility and Related Diseases.

Anesthesiology 2018 01;128(1):159-167

From the Department of Anesthesiology and Critical Care, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (R.S.L., S.M.G.); Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada (J.J.D.); and Department of Anesthesia and Pain Management, University Health Network, University of Toronto, Toronto, Ontario, Canada (S.R.).

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http://dx.doi.org/10.1097/ALN.0000000000001877DOI Listing
January 2018

Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.

Muscle Nerve 2017 11 18;56(5):E41-E44. Epub 2017 Jul 18.

Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mus.25737DOI Listing
November 2017

A novel intronic mutation in detected by RNA analysis in a case of X-linked myotubular myopathy.

Neurol Genet 2017 Oct 24;3(5):e182. Epub 2017 Aug 24.

Division of Neurology (A.A.-H., H.G., K.A., J.J.D.) and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children; Department of Paediatrics (J.J.D.) and Deparmtent of Molecular Genetics (J.J.D.), University of Toronto, ON, Canada; Division of Neurology (A.A.-H.), King Fahad Medical City, Riyadh, Saudi Arabia; and Department of Human Genetics (S.D.), University of Chicago, IL.

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http://dx.doi.org/10.1212/NXG.0000000000000182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570672PMC
October 2017

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.

PLoS One 2017 27;12(2):e0172648. Epub 2017 Feb 27.

Departments of Pediatrics and Molecular Genetics, University of Toronto, Toronto, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0172648PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328290PMC
September 2017

A natural history study of X-linked myotubular myopathy.

Neurology 2017 Sep 25;89(13):1355-1364. Epub 2017 Aug 25.

From the Division of Neurology (K.A., E.T., C.-T.N., J.J.D.) and Program for Genetics and Genome Biology (E.T., J.J.D.), Hospital for Sick Children; Departments of Paediatrics (K.A., J.J.D.), Computer Science (M.G.), and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada; Cure CMD (R.A., S.d.C., A.R.), Torrance, CA; Autodesk Research (M.G.), Toronto, Ontario, Canada; Kaiser SCPMG (A.R.), Torrance, CA; Physical Medicine and Rehabilitation (J.H.), University of Michigan, Ann Arbor; and Division of Genetics and Genomics (A.H.B.), The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.

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http://dx.doi.org/10.1212/WNL.0000000000004415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649758PMC
September 2017

Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.

Can J Anaesth 2017 Jul 21;64(7):736-743. Epub 2017 Mar 21.

Malignant Hyperthermia Investigation Unit, Toronto General Hospital, 200 Elizabeth Street, Toronto, ON, M5G 2C4, Canada.

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http://dx.doi.org/10.1007/s12630-017-0865-5DOI Listing
July 2017

"The Certified Duchenne Care Center Program".

Neuromuscul Disord 2016 Dec 19;26(12):853-859. Epub 2016 Sep 19.

Nationwide Children's Hospital, 700 Children's Dr., Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.nmd.2016.09.007DOI Listing
December 2016

Eteplirsen therapy for Duchenne muscular dystrophy: skipping to the front of the line.

Authors:
James J Dowling

Nat Rev Neurol 2016 12 18;12(12):675-676. Epub 2016 Nov 18.

Division of Neurology and Program for Genetics and Genome Biology, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1038/nrneurol.2016.180DOI Listing
December 2016

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.

Neuromuscul Disord 2016 09 7;26(9):624-33. Epub 2016 Jun 7.

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

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http://dx.doi.org/10.1016/j.nmd.2016.06.001DOI Listing
September 2016

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.

Neuromuscul Disord 2016 Mar 23;26(3):201-6. Epub 2016 Feb 23.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.02.007DOI Listing
March 2016

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Am J Hum Genet 2016 Jan 10;98(1):90-101. Epub 2015 Dec 10.

Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. Electronic address:

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http://www.cell.com/cms/attachment/2040911867/2054828527/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500457
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http://dx.doi.org/10.1016/j.ajhg.2015.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716669PMC
January 2016

RNAseq analysis for the diagnosis of muscular dystrophy.

Ann Clin Transl Neurol 2016 01 8;3(1):55-60. Epub 2015 Dec 8.

Division of Neurology Hospital for Sick Children Toronto Ontario Canada M5G A04; Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.

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http://dx.doi.org/10.1002/acn3.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704476PMC
January 2016

X-linked myopathy with excessive autophagy: a failure of self-eating.

Acta Neuropathol 2015 Mar 3;129(3):383-90. Epub 2015 Feb 3.

Division of Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada,

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http://dx.doi.org/10.1007/s00401-015-1393-4DOI Listing
March 2015

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Neurology 2014 Dec 31;83(23):2175-82. Epub 2014 Oct 31.

From the Program in Cellular and Molecular Biology (R.B., M.B.), Molecular & Behavioral Neuroscience Institute (R.B., K.M., M.B.), Departments of Human Genetics (J.X., W.P., J.Z.L., M.B.), Neurology (J.J.D.), Pediatrics (J.J.D.), and Psychiatry (M.B.), University of Michigan Medical Center, Ann Arbor; and Department of Neurology (Z.Y.), Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey. J.J.D. is currently affiliated with the Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Departments of Pediatrics and Molecular Genetics, University of Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000001053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276403PMC
December 2014

Triadopathies: an emerging class of skeletal muscle diseases.

Neurotherapeutics 2014 Oct;11(4):773-85

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

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http://dx.doi.org/10.1007/s13311-014-0300-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391390PMC
October 2014

Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy.

Hum Mol Genet 2014 Sep 23;23(17):4651-62. Epub 2014 Apr 23.

Department of Pediatrics, Department of Neurology, and Department of Neuroscience, University of Michigan, Ann Arbor, MI 48109-2200, USA Division of Neurology and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada Department of Paediatrics, and Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

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http://dx.doi.org/10.1093/hmg/ddu185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119416PMC
September 2014

Conditional knockout of pik3c3 causes a murine muscular dystrophy.

Am J Pathol 2014 Jun 13;184(6):1819-30. Epub 2014 Apr 13.

Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan; Department of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2014.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044722PMC
June 2014

Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure.

Dis Model Mech 2014 Feb 7;7(2):289-98. Epub 2013 Nov 7.

Program in Genomics of Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1242/dmm.013235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917250PMC
February 2014

Approach to the diagnosis of congenital myopathies.

Neuromuscul Disord 2014 Feb 18;24(2):97-116. Epub 2013 Nov 18.

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

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http://www.joshuafrase.org/uploads/2011-Diagnosis-Congenital
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http://linkinghub.elsevier.com/retrieve/pii/S096089661300994
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http://dx.doi.org/10.1016/j.nmd.2013.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257342PMC
February 2014

Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.

Dis Model Mech 2014 Jan 2;7(1):143-55. Epub 2013 Oct 2.

Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1242/dmm.012427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882056PMC
January 2014

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.

Dis Model Mech 2014 Jan 17;7(1):157-61. Epub 2013 Oct 17.

Department of Neuroscience, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1242/dmm.012286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882057PMC
January 2014

Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish.

Front Physiol 2014 28;5:14. Epub 2014 Jan 28.

Division of Pediatric Cardiology, Department of Pediatrics and Communicable Diseases, University of Michigan Ann Arbor, MI, USA.

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http://dx.doi.org/10.3389/fphys.2014.00014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904128PMC
January 2014

Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations.

J Vis Exp 2013 Nov 13(81):e50259. Epub 2013 Nov 13.

Departments of Pediatrics and Neurology, University of Michigan.

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http://dx.doi.org/10.3791/50259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990831PMC
November 2013

Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations?

Authors:
James J Dowling

Neurology 2013 Oct 23;81(14):1189-90. Epub 2013 Aug 23.

From the Division of Pediatric Neurology, University of Michigan Medical Center, Ann Arbor.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6cc43DOI Listing
October 2013

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

FEBS J 2013 Sep 25;280(17):4187-97. Epub 2013 Jul 25.

Departments of Neuroscience, Neurology and Pediatrics, University of Michigan Medical Center, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1111/febs.12412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4017590PMC
September 2013

Murine Fig4 is dispensable for muscle development but required for muscle function.

Skelet Muscle 2013 Sep 1;3(1):21. Epub 2013 Sep 1.

Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1186/2044-5040-3-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3844516PMC
September 2013

Two dynamin-2 genes are required for normal zebrafish development.

PLoS One 2013 13;8(2):e55888. Epub 2013 Feb 13.

Department of Neurology, University of Michigan, Ann Arbor, Michigan, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0055888PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572173PMC
August 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet J Rare Dis 2013 Aug 6;8:117. Epub 2013 Aug 6.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1186/1750-1172-8-117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751094PMC
August 2013

Force measurement during contraction to assess muscle function in zebrafish larvae.

J Vis Exp 2013 Jul 23(77). Epub 2013 Jul 23.

Department of Biomedical Engineering, University of Michigan, Michigan, USA.

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http://dx.doi.org/10.3791/50539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846141PMC
July 2013

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

J Mol Med (Berl) 2013 Jun 22;91(6):727-37. Epub 2013 Jan 22.

Department of Neurology, Taubman Medical Research Institute, University of Michigan Medical Center, BSRB 5017, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1007/s00109-013-0994-4DOI Listing
June 2013

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

Dis Model Mech 2012 Nov 24;5(6):852-9. Epub 2012 May 24.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1242/dmm.009746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484867PMC
November 2012

Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.

J Genet Couns 2012 Oct 25;21(5):713-25. Epub 2012 Feb 25.

Adult Genetics Clinic, University of Colorado Hospital, Aurora, 80045, USA.

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October 2012

Neuromuscular effects of G93A-SOD1 expression in zebrafish.

Mol Neurodegener 2012 Aug 31;7:44. Epub 2012 Aug 31.

Department of Neurology, University of Michigan, 109 Zina Pitcher Place, Ann Arbor 5017 AAT-BSRBMI, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506515PMC
August 2012

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

Dis Model Mech 2012 May 12;5(3):389-96. Epub 2011 Dec 12.

Departments of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1242/dmm.008631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339832PMC
May 2012

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.

Neuromuscul Disord 2012 May 5;22(5):453-62. Epub 2012 Jan 5.

Clinical Neuroscience Division, IOP, King's College, London, United Kingdom.

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May 2012

Congenital myopathies: an update.

Curr Neurol Neurosci Rep 2012 Apr;12(2):165-74

Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.

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April 2012

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.

Brain 2012 Apr 14;135(Pt 4):1115-27. Epub 2012 Mar 14.

Department of Paediatrics, University of Michigan Medical School, Ann Arbor, MI 48109-2200, USA.

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April 2012

Guidelines for the use and interpretation of assays for monitoring autophagy.

Authors:
Daniel J Klionsky Fabio C Abdalla Hagai Abeliovich Robert T Abraham Abraham Acevedo-Arozena Khosrow Adeli Lotta Agholme Maria Agnello Patrizia Agostinis Julio A Aguirre-Ghiso Hyung Jun Ahn Ouardia Ait-Mohamed Slimane Ait-Si-Ali Takahiko Akematsu Shizuo Akira Hesham M Al-Younes Munir A Al-Zeer Matthew L Albert Roger L Albin Javier Alegre-Abarrategui Maria Francesca Aleo Mehrdad Alirezaei Alexandru Almasan Maylin Almonte-Becerril Atsuo Amano Ravi Amaravadi Shoba Amarnath Amal O Amer Nathalie Andrieu-Abadie Vellareddy Anantharam David K Ann Shailendra Anoopkumar-Dukie Hiroshi Aoki Nadezda Apostolova Giuseppe Arancia John P Aris Katsuhiko Asanuma Nana Y O Asare Hisashi Ashida Valerie Askanas David S Askew Patrick Auberger Misuzu Baba Steven K Backues Eric H Baehrecke Ben A Bahr Xue-Yuan Bai Yannick Bailly Robert Baiocchi Giulia Baldini Walter Balduini Andrea Ballabio Bruce A Bamber Edward T W Bampton Gábor Bánhegyi Clinton R Bartholomew Diane C Bassham Robert C Bast Henri Batoko Boon-Huat Bay Isabelle Beau Daniel M Béchet Thomas J Begley Christian Behl Christian Behrends Soumeya Bekri Bryan Bellaire Linda J Bendall Luca Benetti Laura Berliocchi Henri Bernardi Francesca Bernassola Sébastien Besteiro Ingrid Bhatia-Kissova Xiaoning Bi Martine Biard-Piechaczyk Janice S Blum Lawrence H Boise Paolo Bonaldo David L Boone Beat C Bornhauser Karina R Bortoluci Ioannis Bossis Frédéric Bost Jean-Pierre Bourquin Patricia Boya Michaël Boyer-Guittaut Peter V Bozhkov Nathan R Brady Claudio Brancolini Andreas Brech Jay E Brenman Ana Brennand Emery H Bresnick Patrick Brest Dave Bridges Molly L Bristol Paul S Brookes Eric J Brown John H Brumell Nicola Brunetti-Pierri Ulf T Brunk Dennis E Bulman Scott J Bultman Geert Bultynck Lena F Burbulla Wilfried Bursch Jonathan P Butchar Wanda Buzgariu Sergio P Bydlowski Ken Cadwell Monika Cahová Dongsheng Cai Jiyang Cai Qian Cai Bruno Calabretta Javier Calvo-Garrido Nadine Camougrand Michelangelo Campanella Jenny Campos-Salinas Eleonora Candi Lizhi Cao Allan B Caplan Simon R Carding Sandra M Cardoso Jennifer S Carew Cathleen R Carlin Virginie Carmignac Leticia A M Carneiro Serena Carra Rosario A Caruso Giorgio Casari Caty Casas Roberta Castino Eduardo Cebollero Francesco Cecconi Jean Celli Hassan Chaachouay Han-Jung Chae Chee-Yin Chai David C Chan Edmond Y Chan Raymond Chuen-Chung Chang Chi-Ming Che Ching-Chow Chen Guang-Chao Chen Guo-Qiang Chen Min Chen Quan Chen Steve S-L Chen WenLi Chen Xi Chen Xiangmei Chen Xiequn Chen Ye-Guang Chen Yingyu Chen Yongqiang Chen Yu-Jen Chen Zhixiang Chen Alan Cheng Christopher H K Cheng Yan Cheng Heesun Cheong Jae-Ho Cheong Sara Cherry Russ Chess-Williams Zelda H Cheung Eric Chevet Hui-Ling Chiang Roberto Chiarelli Tomoki Chiba Lih-Shen Chin Shih-Hwa Chiou Francis V Chisari Chi Hin Cho Dong-Hyung Cho Augustine M K Choi DooSeok Choi Kyeong Sook Choi Mary E Choi Salem Chouaib Divaker Choubey Vinay Choubey Charleen T Chu Tsung-Hsien Chuang Sheau-Huei Chueh Taehoon Chun Yong-Joon Chwae Mee-Len Chye Roberto Ciarcia Maria R Ciriolo Michael J Clague Robert S B Clark Peter G H Clarke Robert Clarke Patrice Codogno Hilary A Coller María I Colombo Sergio Comincini Maria Condello Fabrizio Condorelli Mark R Cookson Graham H Coombs Isabelle Coppens Ramon Corbalan Pascale Cossart Paola Costelli Safia Costes Ana Coto-Montes Eduardo Couve Fraser P Coxon James M Cregg José L Crespo Marianne J Cronjé Ana Maria Cuervo Joseph J Cullen Mark J Czaja Marcello D'Amelio Arlette Darfeuille-Michaud Lester M Davids Faith E Davies Massimo De Felici John F de Groot Cornelis A M de Haan Luisa De Martino Angelo De Milito Vincenzo De Tata Jayanta Debnath Alexei Degterev Benjamin Dehay Lea M D Delbridge Francesca Demarchi Yi Zhen Deng Jörn Dengjel Paul Dent Donna Denton Vojo Deretic Shyamal D Desai Rodney J Devenish Mario Di Gioacchino Gilbert Di Paolo Chiara Di Pietro Guillermo Díaz-Araya Inés Díaz-Laviada Maria T Diaz-Meco Javier Diaz-Nido Ivan Dikic Savithramma P Dinesh-Kumar Wen-Xing Ding Clark W Distelhorst Abhinav Diwan Mojgan Djavaheri-Mergny Svetlana Dokudovskaya Zheng Dong Frank C Dorsey Victor Dosenko James J Dowling Stephen Doxsey Marlène Dreux Mark E Drew Qiuhong Duan Michel A Duchosal Karen Duff Isabelle Dugail Madeleine Durbeej Michael Duszenko Charles L Edelstein Aimee L Edinger Gustavo Egea Ludwig Eichinger N Tony Eissa Suhendan Ekmekcioglu Wafik S El-Deiry Zvulun Elazar Mohamed Elgendy Lisa M Ellerby Kai Er Eng Anna-Mart Engelbrecht Simone Engelender Jekaterina Erenpreisa Ricardo Escalante Audrey Esclatine Eeva-Liisa Eskelinen Lucile Espert Virginia Espina Huizhou Fan Jia Fan Qi-Wen Fan Zhen Fan Shengyun Fang Yongqi Fang Manolis Fanto Alessandro Fanzani Thomas Farkas Jean-Claude Farré Mathias Faure Marcus Fechheimer Carl G Feng Jian Feng Qili Feng Youji Feng László Fésüs Ralph Feuer Maria E Figueiredo-Pereira Gian Maria Fimia Diane C Fingar Steven Finkbeiner Toren Finkel Kim D Finley Filomena Fiorito Edward A Fisher Paul B Fisher Marc Flajolet Maria L Florez-McClure Salvatore Florio Edward A Fon Francesco Fornai Franco Fortunato Rati Fotedar Daniel H Fowler Howard S Fox Rodrigo Franco Lisa B Frankel Marc Fransen José M Fuentes Juan Fueyo Jun Fujii Kozo Fujisaki Eriko Fujita Mitsunori Fukuda Ruth H Furukawa Matthias Gaestel Philippe Gailly Malgorzata Gajewska Brigitte Galliot Vincent Galy Subramaniam Ganesh Barry Ganetzky Ian G Ganley Fen-Biao Gao George F Gao Jinming Gao Lorena Garcia Guillermo Garcia-Manero Mikel Garcia-Marcos Marjan Garmyn Andrei L Gartel Evelina Gatti Mathias Gautel Thomas R Gawriluk Matthew E Gegg Jiefei Geng Marc Germain Jason E Gestwicki David A Gewirtz Saeid Ghavami Pradipta Ghosh Anna M Giammarioli Alexandra N Giatromanolaki Spencer B Gibson Robert W Gilkerson Michael L Ginger Henry N Ginsberg Jakub Golab Michael S Goligorsky Pierre Golstein Candelaria Gomez-Manzano Ebru Goncu Céline Gongora Claudio D Gonzalez Ramon Gonzalez Cristina González-Estévez Rosa Ana González-Polo Elena Gonzalez-Rey Nikolai V Gorbunov Sharon Gorski Sandro Goruppi Roberta A Gottlieb Devrim Gozuacik Giovanna Elvira Granato Gary D Grant Kim N Green Aleš Gregorc Frédéric Gros Charles Grose Thomas W Grunt Philippe Gual Jun-Lin Guan Kun-Liang Guan Sylvie M Guichard Anna S Gukovskaya Ilya Gukovsky Jan Gunst Asa B Gustafsson Andrew J Halayko Amber N Hale Sandra K Halonen Maho Hamasaki Feng Han Ting Han Michael K Hancock Malene Hansen Hisashi Harada Masaru Harada Stefan E Hardt J Wade Harper Adrian L Harris James Harris Steven D Harris Makoto Hashimoto Jeffrey A Haspel Shin-ichiro Hayashi Lori A Hazelhurst Congcong He You-Wen He Marie-Joseé Hébert Kim A Heidenreich Miep H Helfrich Gudmundur V Helgason Elizabeth P Henske Brian Herman Paul K Herman Claudio Hetz Sabine Hilfiker Joseph A Hill Lynne J Hocking Paul Hofman Thomas G Hofmann Jörg Höhfeld Tessa L Holyoake Ming-Huang Hong David A Hood Gökhan S Hotamisligil Ewout J Houwerzijl Maria Høyer-Hansen Bingren Hu Chien-An A Hu Hong-Ming Hu Ya Hua Canhua Huang Ju Huang Shengbing Huang Wei-Pang Huang Tobias B Huber Won-Ki Huh Tai-Ho Hung Ted R Hupp Gang Min Hur James B Hurley Sabah N A Hussain Patrick J Hussey Jung Jin Hwang Seungmin Hwang Atsuhiro Ichihara Shirin Ilkhanizadeh Ken Inoki Takeshi Into Valentina Iovane Juan L Iovanna Nancy Y Ip Yoshitaka Isaka Hiroyuki Ishida Ciro Isidoro Ken-ichi Isobe Akiko Iwasaki Marta Izquierdo Yotaro Izumi Panu M Jaakkola Marja Jäättelä George R Jackson William T Jackson Bassam Janji Marina Jendrach Ju-Hong Jeon Eui-Bae Jeung Hong Jiang Hongchi Jiang Jean X Jiang Ming Jiang Qing Jiang Xuejun Jiang Xuejun Jiang Alberto Jiménez Meiyan Jin Shengkan Jin Cheol O Joe Terje Johansen Daniel E Johnson Gail V W Johnson Nicola L Jones Bertrand Joseph Suresh K Joseph Annie M Joubert Gábor Juhász Lucienne Juillerat-Jeanneret Chang Hwa Jung Yong-Keun Jung Kai Kaarniranta Allen Kaasik Tomohiro Kabuta Motoni Kadowaki Katarina Kagedal Yoshiaki Kamada Vitaliy O Kaminskyy Harm H Kampinga Hiromitsu Kanamori Chanhee Kang Khong Bee Kang Kwang Il Kang Rui Kang Yoon-A Kang Tomotake Kanki Thirumala-Devi Kanneganti Haruo Kanno Anumantha G Kanthasamy Arthi Kanthasamy Vassiliki Karantza Gur P Kaushal Susmita Kaushik Yoshinori Kawazoe Po-Yuan Ke John H Kehrl Ameeta Kelekar Claus Kerkhoff David H Kessel Hany Khalil Jan A K W Kiel Amy A Kiger Akio Kihara Deok Ryong Kim Do-Hyung Kim Dong-Hou Kim Eun-Kyoung Kim Hyung-Ryong Kim Jae-Sung Kim Jeong Hun Kim Jin Cheon Kim John K Kim Peter K Kim Seong Who Kim Yong-Sun Kim Yonghyun Kim Adi Kimchi Alec C Kimmelman Jason S King Timothy J Kinsella Vladimir Kirkin Lorrie A Kirshenbaum Katsuhiko Kitamoto Kaio Kitazato Ludger Klein Walter T Klimecki Jochen Klucken Erwin Knecht Ben C B Ko Jan C Koch Hiroshi Koga Jae-Young Koh Young Ho Koh Masato Koike Masaaki Komatsu Eiki Kominami Hee Jeong Kong Wei-Jia Kong Viktor I Korolchuk Yaichiro Kotake Michael I Koukourakis Juan B Kouri Flores Attila L Kovács Claudine Kraft Dimitri Krainc Helmut Krämer Carole Kretz-Remy Anna M Krichevsky Guido Kroemer Rejko Krüger Oleg Krut Nicholas T Ktistakis Chia-Yi Kuan Roza Kucharczyk Ashok Kumar Raj Kumar Sharad Kumar Mondira Kundu Hsing-Jien Kung Tino Kurz Ho Jeong Kwon Albert R La Spada Frank Lafont Trond Lamark Jacques Landry Jon D Lane Pierre Lapaquette Jocelyn F Laporte Lajos László Sergio Lavandero Josée N Lavoie Robert Layfield Pedro A Lazo Weidong Le Laurent Le Cam Daniel J Ledbetter Alvin J X Lee Byung-Wan Lee Gyun Min Lee Jongdae Lee Ju-Hyun Lee Michael Lee Myung-Shik Lee Sug Hyung Lee Christiaan Leeuwenburgh Patrick Legembre Renaud Legouis Michael Lehmann Huan-Yao Lei Qun-Ying Lei David A Leib José Leiro John J Lemasters Antoinette Lemoine Maciej S Lesniak Dina Lev Victor V Levenson Beth Levine Efrat Levy Faqiang Li Jun-Lin Li Lian Li Sheng Li Weijie Li Xue-Jun Li Yan-bo Li Yi-Ping Li Chengyu Liang Qiangrong Liang Yung-Feng Liao Pawel P Liberski Andrew Lieberman Hyunjung J Lim Kah-Leong Lim Kyu Lim Chiou-Feng Lin Fu-Cheng Lin Jian Lin Jiandie D Lin Kui Lin Wan-Wan Lin Weei-Chin Lin Yi-Ling Lin Rafael Linden Paul Lingor Jennifer Lippincott-Schwartz Michael P Lisanti Paloma B Liton Bo Liu Chun-Feng Liu Kaiyu Liu Leyuan Liu Qiong A Liu Wei Liu Young-Chau Liu Yule Liu Richard A Lockshin Chun-Nam Lok Sagar Lonial Benjamin Loos Gabriel Lopez-Berestein Carlos López-Otín Laura Lossi Michael T Lotze Peter Lőw Binfeng Lu Bingwei Lu Bo Lu Zhen Lu Frédéric Luciano Nicholas W Lukacs Anders H Lund Melinda A Lynch-Day Yong Ma Fernando Macian Jeff P MacKeigan Kay F Macleod Frank Madeo Luigi Maiuri Maria Chiara Maiuri Davide Malagoli May Christine V Malicdan Walter Malorni Na Man Eva-Maria Mandelkow Stéphen Manon Irena Manov Kai Mao Xiang Mao Zixu Mao Philippe Marambaud Daniela Marazziti Yves L Marcel Katie Marchbank Piero Marchetti Stefan J Marciniak Mateus Marcondes Mohsen Mardi Gabriella Marfe Guillermo Mariño Maria Markaki Mark R Marten Seamus J Martin Camille Martinand-Mari Wim Martinet Marta Martinez-Vicente Matilde Masini Paola Matarrese Saburo Matsuo Raffaele Matteoni Andreas Mayer Nathalie M Mazure David J McConkey Melanie J McConnell Catherine McDermott Christine McDonald Gerald M McInerney Sharon L McKenna BethAnn McLaughlin Pamela J McLean Christopher R McMaster G Angus McQuibban Alfred J Meijer Miriam H Meisler Alicia Meléndez Thomas J Melia Gerry Melino Maria A Mena Javier A Menendez Rubem F S Menna-Barreto Manoj B Menon Fiona M Menzies Carol A Mercer Adalberto Merighi Diane E Merry Stefania Meschini Christian G Meyer Thomas F Meyer Chao-Yu Miao Jun-Ying Miao Paul A M Michels Carine Michiels Dalibor Mijaljica Ana Milojkovic Saverio Minucci Clelia Miracco Cindy K Miranti Ioannis Mitroulis Keisuke Miyazawa Noboru Mizushima Baharia Mograbi Simin Mohseni Xavier Molero Bertrand Mollereau Faustino Mollinedo Takashi Momoi Iryna Monastyrska Martha M Monick Mervyn J Monteiro Michael N Moore Rodrigo Mora Kevin Moreau Paula I Moreira Yuji Moriyasu Jorge Moscat Serge Mostowy Jeremy C Mottram Tomasz Motyl Charbel E-H Moussa Sylke Müller Sylviane Muller Karl Münger Christian Münz Leon O Murphy Maureen E Murphy Antonio Musarò Indira Mysorekar Eiichiro Nagata Kazuhiro Nagata Aimable Nahimana Usha Nair Toshiyuki Nakagawa Kiichi Nakahira Hiroyasu Nakano Hitoshi Nakatogawa Meera Nanjundan Naweed I Naqvi Derek P Narendra Masashi Narita Miguel Navarro Steffan T Nawrocki Taras Y Nazarko Andriy Nemchenko Mihai G Netea Thomas P Neufeld Paul A Ney Ioannis P Nezis Huu Phuc Nguyen Daotai Nie Ichizo Nishino Corey Nislow Ralph A Nixon Takeshi Noda Angelika A Noegel Anna Nogalska Satoru Noguchi Lucia Notterpek Ivana Novak Tomoyoshi Nozaki Nobuyuki Nukina Thorsten Nürnberger Beat Nyfeler Keisuke Obara Terry D Oberley Salvatore Oddo Michinaga Ogawa Toya Ohashi Koji Okamoto Nancy L Oleinick F Javier Oliver Laura J Olsen Stefan Olsson Onya Opota Timothy F Osborne Gary K Ostrander Kinya Otsu Jing-hsiung James Ou Mireille Ouimet Michael Overholtzer Bulent Ozpolat Paolo Paganetti Ugo Pagnini Nicolas Pallet Glen E Palmer Camilla Palumbo Tianhong Pan 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Ravikumar Swapan K Ray Bruce H Reed John C Reed Fulvio Reggiori Anne Régnier-Vigouroux Andreas S Reichert John J Reiners Russel J Reiter Jun Ren José L Revuelta Christopher J Rhodes Konstantinos Ritis Elizete Rizzo Jeffrey Robbins Michel Roberge Hernan Roca Maria C Roccheri Stephane Rocchi H Peter Rodemann Santiago Rodríguez de Córdoba Bärbel Rohrer Igor B Roninson Kirill Rosen Magdalena M Rost-Roszkowska Mustapha Rouis Kasper M A Rouschop Francesca Rovetta Brian P Rubin David C Rubinsztein Klaus Ruckdeschel Edmund B Rucker Assaf Rudich Emil Rudolf Nelson Ruiz-Opazo Rossella Russo Tor Erik Rusten Kevin M Ryan Stefan W Ryter David M Sabatini Junichi Sadoshima Tapas Saha Tatsuya Saitoh Hiroshi Sakagami Yasuyoshi Sakai Ghasem Hoseini Salekdeh Paolo Salomoni Paul M Salvaterra Guy Salvesen Rosa Salvioli Anthony M J Sanchez José A Sánchez-Alcázar Ricardo Sánchez-Prieto Marco Sandri Uma Sankar Poonam Sansanwal Laura Santambrogio Shweta Saran Sovan Sarkar Minnie Sarwal Chihiro Sasakawa Ausra Sasnauskiene Miklós Sass Ken Sato Miyuki Sato Anthony H V Schapira Michael Scharl Hermann M Schätzl Wiep Scheper Stefano Schiaffino Claudio Schneider Marion E Schneider Regine Schneider-Stock Patricia V Schoenlein Daniel F Schorderet Christoph Schüller Gary K Schwartz Luca Scorrano Linda Sealy Per O Seglen Juan Segura-Aguilar Iban Seiliez Oleksandr Seleverstov Christian Sell Jong Bok Seo Duska Separovic Vijayasaradhi Setaluri Takao Setoguchi Carmine Settembre John J Shacka Mala Shanmugam Irving M Shapiro Eitan Shaulian Reuben J Shaw James H Shelhamer Han-Ming Shen Wei-Chiang Shen Zu-Hang Sheng Yang Shi Kenichi Shibuya Yoshihiro Shidoji Jeng-Jer Shieh Chwen-Ming Shih Yohta Shimada Shigeomi Shimizu Takahiro Shintani Orian S Shirihai Gordon C Shore Andriy A Sibirny Stan B Sidhu Beata Sikorska Elaine C M Silva-Zacarin Alison Simmons Anna Katharina Simon Hans-Uwe Simon Cristiano Simone Anne Simonsen David A Sinclair Rajat Singh Debasish Sinha Frank A Sinicrope Agnieszka Sirko Parco M Siu 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Craig B Thompson Andrew Thorburn Michael Thumm FengFeng Tian Yuan Tian Glauco Tocchini-Valentini Aviva M Tolkovsky Yasuhiko Tomino Lars Tönges Sharon A Tooze Cathy Tournier John Tower Roberto Towns Vladimir Trajkovic Leonardo H Travassos Ting-Fen Tsai Mario P Tschan Takeshi Tsubata Allan Tsung Boris Turk Lorianne S Turner Suresh C Tyagi Yasuo Uchiyama Takashi Ueno Midori Umekawa Rika Umemiya-Shirafuji Vivek K Unni Maria I Vaccaro Enza Maria Valente Greet Van den Berghe Ida J van der Klei Wouter van Doorn Linda F van Dyk Marjolein van Egmond Leo A van Grunsven Peter Vandenabeele Wim P Vandenberghe Ilse Vanhorebeek Eva C Vaquero Guillermo Velasco Tibor Vellai Jose Miguel Vicencio Richard D Vierstra Miquel Vila Cécile Vindis Giampietro Viola Maria Teresa Viscomi Olga V Voitsekhovskaja Clarissa von Haefen Marcela Votruba Keiji Wada Richard Wade-Martins Cheryl L Walker Craig M Walsh Jochen Walter Xiang-Bo Wan Aimin Wang Chenguang Wang Dawei Wang Fan Wang Fen Wang Guanghui Wang Haichao Wang 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Autophagy 2012 Apr;8(4):445-544

Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.

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Prevalence of congenital myopathies in a representative pediatric united states population.

Ann Neurol 2011 Oct;70(4):662-5

Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA. .

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October 2011

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

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Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA.

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Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.

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Section of Cell and Developmental Biology, University of California San Diego, La Jolla, California, United States of America.

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CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.

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The role of MTMR14 in autophagy and in muscle disease.

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August 2010

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

PLoS Genet 2009 Feb 6;5(2):e1000372. Epub 2009 Feb 6.

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Membrane traffic and muscle: lessons from human disease.

Traffic 2008 Jul 4;9(7):1035-43. Epub 2008 Feb 4.

Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1111/j.1600-0854.2008.00716.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935664PMC
July 2008

Kindlin-2 is required for myocyte elongation and is essential for myogenesis.

BMC Cell Biol 2008 Jul 8;9:36. Epub 2008 Jul 8.

Department of Pediatrics, University of Michigan, Ann Arbor, USA.

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http://dx.doi.org/10.1186/1471-2121-9-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2478659PMC
July 2008

Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function.

Circ Res 2008 Feb 3;102(4):423-31. Epub 2008 Jan 3.

Division of Pediatric Neurology, L3215 Women's Hospital, Ann Arbor, MI 48109-0203, USA.

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http://dx.doi.org/10.1161/CIRCRESAHA.107.161489DOI Listing
February 2008

The uncertainty of the pendulum method for the determination of the moment of inertia.

Med Eng Phys 2006 Oct 25;28(8):837-41. Epub 2006 Jan 25.

Department of Kinesiology, McMaster University, 1280 Main Street West, Hamilton, Ont., Canada L8S 4K1.

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http://dx.doi.org/10.1016/j.medengphy.2005.11.007DOI Listing
October 2006

Body segment parameter estimation of the human lower leg using an elliptical model with validation from DEXA.

Ann Biomed Eng 2006 Sep 28;34(9):1483-93. Epub 2006 Apr 28.

Department of Kinesiology, Faculty of Applied Health Sciences, University of Waterloo, 200 University Ave. W, Waterloo, ON, Canada N2L 3G1.

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http://dx.doi.org/10.1007/s10439-006-9088-6DOI Listing
September 2006

Predicting in vivo soft tissue masses of the lower extremity using segment anthropometric measures and DXA.

J Appl Biomech 2005 Nov;21(4):371-82

Dept. of Rehabilitation Sciences, The University of Western Ontario, London, Ontario.

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http://dx.doi.org/10.1123/jab.21.4.371DOI Listing
November 2005

Using mass distribution information to model the human thigh for body segment parameter estimation.

J Biomech Eng 2005 Jun;127(3):455-64

Department of Kinesiology, University of Waterloo, ON, Canada.

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http://dx.doi.org/10.1115/1.1894367DOI Listing
June 2005

Design and responses of Butterworth and critically damped digital filters.

J Electromyogr Kinesiol 2003 Dec;13(6):569-73

University of Ottawa, School of Kinetics, Ottawa, ON K1N 6N5, Canada.

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http://dx.doi.org/10.1016/s1050-6411(03)00080-4DOI Listing
December 2003

Analysis of body segment parameter differences between four human populations and the estimation errors of four popular mathematical models.

J Biomech Eng 2003 Aug;125(4):515-22

Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada L8S 4K1.

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http://dx.doi.org/10.1115/1.1590359DOI Listing
August 2003

The measurement of body segment inertial parameters using dual energy X-ray absorptiometry.

J Biomech 2002 Dec;35(12):1575-80

Department of Kinesiology, McMaster University, ON, Hamilton, Canada L8S 4K1.

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December 2002