Zobrazeno 1 - 10
of 12 442
pro vyhledávání: '"Myotonia"'
Autor:
Campanale C; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Laghetti P; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Saltarella I; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Altamura C; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Canioni E; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Iosa E; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Maggi L; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Brugnoni R; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Tacconi P; Centro Regionale per la Sclerosi Multipla, Ospedale Binaghi, Cagliari, Italy., Desaphy JF; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
Publikováno v:
Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (3), pp. 725-734.
Autor:
Vicart S; National Centre for Muscle Channelopathies, Service of Neuro-Myology, University Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne University, INSERM UMR 974, Institute of Myology, 47-83 Boulevard de l'Hôpital 75013 Paris, France. Electronic address: savine.vicart@aphp.fr., Péréon Y; Reference Centre for Neuromuscular Disorders AOC, Euro-NMD, Filnemus, CHU de Nantes, Hôtel-Dieu, 1, place Alexis-Ricordeau, 44000 Nantes, France., Ghorab K; Reference Centre for Rare Peripheral Neuropathies, CHU de Limoges, 2, avenue Martin-Luther-King, 87000 Limoges, France., Pegat A; Hospices civils de Lyon, Department of ENMG and Neuromuscular Disorders, Reference Centre of Neuromuscular Disorders, Rhône Alpes, Neurological Hospital P.-Wertheimer, 59, boulevard Pinel, 69500 Bron, France., Dufresne R; Lupin Neurosciences, Landis+Gyr Strasse 1, 6300 Zug, Switzerland., Zozulya-Weidenfeller A; Lupin Neurosciences, Landis+Gyr Strasse 1, 6300 Zug, Switzerland., Noury JB; Reference Centre for Neuromuscular Disorders AOC, Inserm, LBAI, UMR1227, CHRU de Brest, boulevard Tanguy-Prigent, 29200 Brest, France., Nadaj-Pakleza A; Reference Centre for Neuromuscular Disorders NEIdF, Euro-NMD, Department of Neurology, Filnemus, hôpitaux universitaires de Strasbourg, 1, avenue Molière, 67200 Strasbourg, France., Tard C; U1172, Reference Centre for Neuromuscular Disorders Nord/Est/Île-de-France, Department of Neurology, Cognitive-Motor Expertise Unit, CHU de Lille, rue Michel-Polonowski, 59000 Lille, France., Sacconi S; Reference Centre for Neuromuscular Disorders, CHU de Nice, 30, voie Romaine, 06000 Nice, France.
Publikováno v:
Revue neurologique [Rev Neurol (Paris)] 2024 Oct; Vol. 180 (8), pp. 791-797. Date of Electronic Publication: 2024 May 28.
Autor:
Lloyd A; Acaster Lloyd Consulting Ltd, London, UK. Andrew.lloyd@acasterlloyd.com., Rand K; Health Services Research Unit, Akershus University Hospital, Lørenskog, Norway.; Maths in Health B.V., Klimmen, The Netherlands., Pike C; Acaster Lloyd Consulting Ltd, London, UK., Ellis C; Lupin Healthcare (UK) Ltd, Slough, Berkshire, UK.
Publikováno v:
The European journal of health economics : HEPAC : health economics in prevention and care [Eur J Health Econ] 2024 Nov; Vol. 25 (8), pp. 1461-1469. Date of Electronic Publication: 2024 Feb 28.
Autor:
Svačina MKR; Department of Neurology, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany., Sprenger-Svačina A; Department of Neurology, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany., Kohle F; Department of Neurology, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany., Wunderlich G; Department of Neurology, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany., Lehmann HC; Department of Neurology, Klinikum Leverkusen, Leverkusen, Germany., Schneider C; Department of Neurology, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany.; Department of Neurology, St. Katharinen Hospital, Frechen, Germany.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Nov; Vol. 70 (5), pp. 954-962. Date of Electronic Publication: 2024 Aug 13.
Autor:
Henzi BC; Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Basel, University of Basel, Basel, Switzerland. Electronic address: bettina.henzi@insel.ch., Klein A; Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Publikováno v:
The Lancet. Neurology [Lancet Neurol] 2024 Oct; Vol. 23 (10), pp. 953-955.
Autor:
He Y; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Qiu Y; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Rare Disease Center, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Xiong Y; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Rare Disease Center, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Shen Y; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Jiang K; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Yi H; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Huang P; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Zhu Y; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Rare Disease Center, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Zhu M; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Rare Disease Center, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Zhou M; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Rare Disease Center, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China., Hong D; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Rare Disease Center, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Institute of Neurology, Jiangxi Academy of Clinical Medical Science, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Key Laboratory of Rare Neurological Diseases of Jiangxi Provincial Health Commission, Jiangxi Medical College, Nanchang University, Nanchang, China., Tan D; Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Rare Disease Center, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Institute of Neurology, Jiangxi Academy of Clinical Medical Science, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Key Laboratory of Rare Neurological Diseases of Jiangxi Provincial Health Commission, Jiangxi Medical College, Nanchang University, Nanchang, China.
Publikováno v:
Channels (Austin, Tex.) [Channels (Austin)] 2024 Dec; Vol. 18 (1), pp. 2349823. Date of Electronic Publication: 2024 May 08.
Autor:
Elettreby AM; Faculty of Medicine, Mansoura University, El Gomhouria St, Mansoura, 35511, Egypt. Am731784@gmail.com.; Medical Research Group of Egypt, Negida Academy LLC, Arlington, MA, 02474, USA. Am731784@gmail.com., Elnaga AAA; Faculty of Medicine, Mansoura University, El Gomhouria St, Mansoura, 35511, Egypt.; Medical Research Group of Egypt, Negida Academy LLC, Arlington, MA, 02474, USA., Alsaied MA; Faculty of Medicine, Mansoura University, El Gomhouria St, Mansoura, 35511, Egypt.; Medical Research Group of Egypt, Negida Academy LLC, Arlington, MA, 02474, USA., Ewis DK; Medical Research Group of Egypt, Negida Academy LLC, Arlington, MA, 02474, USA.; Faculty of Medicine, Beni Suef University, Beni Suef, Egypt., Sharkawy AM; Medical Research Group of Egypt, Negida Academy LLC, Arlington, MA, 02474, USA.; Faculty of Medicine, South Valley University, Qena, Egypt., Fareed R; Medical Research Group of Egypt, Negida Academy LLC, Arlington, MA, 02474, USA.; Faculty of Pharmacy, Beni Suef University, Beni Suef, Egypt., Alderbi GM; Medical Research Group of Egypt, Negida Academy LLC, Arlington, MA, 02474, USA.; Faculty of Pharmacy, Beni Suef University, Beni Suef, Egypt.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Aug; Vol. 45 (8), pp. 3989-4001. Date of Electronic Publication: 2024 Feb 26.
Autor:
Elaraby NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo, Egypt. nesma172@yahoo.com., Ahmed HA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo, Egypt., Dawoud H; Pediatric Department, Tanta University, Gharbia, Egypt., Ashaat NA; Professor of Human Genetics, Ain Shams University, Cairo, Egypt., Azmy A; Child Health Department, Medical Research and Clinical Studies Institute, National Research Centre, Dokki, Cairo, Egypt., Galal ER; Biochemistry and Molecular Biology Department, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt., Elhusseny Y; Lecturer of Medical Biochemistry and Molecular Biology, School of Medicine, Newgiza University, Giza, Egypt., Awady HE; Pediatric Department, Fayoum University Hospitals, Fayoum, Egypt., Metwally AM; Community Medicine Research Department/Medical Research, Clinical Studies Institute/National Research Centre (Affiliation ID: 60014618), Dokki, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Publikováno v:
Molecular biology reports [Mol Biol Rep] 2024 Jun 15; Vol. 51 (1), pp. 766. Date of Electronic Publication: 2024 Jun 15.
Autor:
Marinakis NM; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Svingou M; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Papadimas GK; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Papadopoulos C; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Chroni E; Department of Neurology, School of Medicine, University of Patras, Rio-Patras, Greece., Pons R; First Department of Pediatrics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Pavlou E; Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki, Greece., Sarmas I; Department of Neurology, Faculty of Medicine, University of Ioannina, Ioannina, Greece., Kosma K; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Apostolou P; Human Molecular Genetics Laboratory, INRaSTES, National Center for Scientific Research 'Demokritos', Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kekou K; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Aug; Vol. 70 (2), pp. 240-247. Date of Electronic Publication: 2024 Jun 10.
Autor:
Tikhonova TB; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia., Sharkov AA; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University, Moscow, Russia.; Genomed Ltd., Moscow, Russia., Zhorov BS; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.; Sechenov Institute of Evolutionary Physiology & Biochemistry, Russian Academy of Sciences, St. Petersburg, Russia.; Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, Canada., Vassilevski AA; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.; Moscow Institute of Physics and Technology, State University, Dolgoprudny, Russia.
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2024 Aug 31; Vol. 38 (16), pp. e23883.