Publications by authors named "Susan Treves"

77Publications

Extraocular muscle function is impaired in mice.

J Gen Physiol 2019 07 13;151(7):929-943. Epub 2019 May 13.

Department of Anesthesia, Basel University Hospital, Basel, Switzerland

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July 2019

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

Hum Mol Genet 2019 05;28(10):1579-1593

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm, CNRS, Université de Strasbourg, Illkirch, France.

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May 2019

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Nat Rev Neurol 2018 03 2;14(3):151-167. Epub 2018 Feb 2.

The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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March 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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January 2018

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Hum Mol Genet 2017 01;26(2):320-332

Departments of Biomedicine and Anesthesia, Basel University Hospital, Basel University, Basel, Switzerland.

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January 2017

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

BMJ Open Sport Exerc Med 2016 7;2(1):e000151. Epub 2016 Sep 7.

Department of Neurology , Radboud University Medical Centre , Nijmegen , The Netherlands.

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September 2016

Current and future therapeutic approaches to the congenital myopathies.

Semin Cell Dev Biol 2017 04 8;64:191-200. Epub 2016 Aug 8.

Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section Biophysics and Cardiovascular Division, King's College BHF Centre of Research Excellence, United Kingdom.

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April 2017

Ca handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Semin Cell Dev Biol 2017 04 15;64:201-212. Epub 2016 Jul 15.

Departments of Biomedicine and Anesthesia, Basel University Hospital, 4031 Basel, Switzerland; Department of Life Sciences, General Pathology Section, University of Ferrara, 44100 Ferrara, Italy.

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April 2017

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Sci Signal 2016 07 5;9(435):ra68. Epub 2016 Jul 5.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London SE1 7EH, UK. Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London SE1 1UL, UK. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London SE5 9RX, UK.

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July 2016

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.

J Biol Chem 2016 Jul 4;291(28):14555-65. Epub 2016 May 4.

From the Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland, Department of Life Science and Biotechnology, University of Ferrara, Via Borsari 46, 44100, Ferrara, Italy

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July 2016