Zobrazeno 1 - 10
of 3 198
pro vyhledávání: '"Myotonia Congenita"'
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:
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:
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:
Nakamura Y; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine., Sato H; Department of Multiomics, Institute of Well-being, Yamagata University., Kakiuchi K; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine., Miyano Y; Department of Multiomics, Institute of Well-being, Yamagata University., Hosokawa T; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine., Arawaka S; Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine.
Publikováno v:
Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2024 May 24; Vol. 64 (5), pp. 344-348. Date of Electronic Publication: 2024 Apr 20.
Autor:
Jacobsen LN; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Stemmerik MG; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Skriver SV; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Pedersen JJ; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Apr; Vol. 31 (4), pp. e16207. Date of Electronic Publication: 2024 Jan 25.
Autor:
Dupont C; Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH, 45435, USA., Blake B; Department of Biological Sciences, Wright State University, Dayton, OH, 45435, USA., Voss AA; Department of Biological Sciences, Wright State University, Dayton, OH, 45435, USA., Rich MM; Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH, 45435, USA. mark.rich@wright.edu.
Publikováno v:
Pflugers Archiv : European journal of physiology [Pflugers Arch] 2024 Nov; Vol. 476 (11), pp. 1693-1702. Date of Electronic Publication: 2024 Aug 16.
Autor:
Canfora I; Department of Pharmacy & Drug Sciences, University of Bari Aldo Moro, Bari, Italy., Altamura C; Department of Precision and Regenerative Medicine and Ionian Area, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Desaphy JF; Department of Precision and Regenerative Medicine and Ionian Area, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Boccanegra B; Department of Pharmacy & Drug Sciences, University of Bari Aldo Moro, Bari, Italy., Vailati S; Global Medical Office and R&D, Zambon S.p.A., Bresso, MI, Italy., Caccia C; Global Medical Office and R&D, Zambon S.p.A., Bresso, MI, Italy., Melloni E; Global Medical Office and R&D, Zambon S.p.A., Bresso, MI, Italy., Padoani G; Global Medical Office and R&D, Zambon S.p.A., Bresso, MI, Italy., De Luca A; Department of Pharmacy & Drug Sciences, University of Bari Aldo Moro, Bari, Italy., Pierno S; Department of Pharmacy & Drug Sciences, University of Bari Aldo Moro, Bari, Italy. Electronic address: sabata.pierno@uniba.it.
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2024 Oct; Vol. 21 (6), pp. e00455. Date of Electronic Publication: 2024 Sep 24.
Autor:
Verhoeven JI; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Kramer J; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Seeger J; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Molenaar JP; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Braakman H; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Kamsteeg EJ; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Rodenburg RJ; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Kusters B; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Koudijs S; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Van Engelen BG; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Erasmus CE; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands., Voermans NC; From the Department of Neurology (J.I.V., J.K., J.P.M., B.G.V.E., N.C.V.), Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands; Sozialpädiatrisches Zentrum Frankfurt Mitte (J.S.), Neuromuskuläres Zentrum, Frankfurt, Germany; Department of Neurology (J.P.M.), Rijnstate Hospital, Arnhem; Department of Pediatric Neurology (H.B., C.E.E.); Department of Genetics (E.-J.K.); Department of Laboratory Medicine (R.J.R.); Department of Pathology (B.K.), Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen; and Department of Pediatric Neurology (S.K.), Erasmus University Medical Centre, Rotterdam, The Netherlands.
Publikováno v:
Neurology [Neurology] 2024 Mar 12; Vol. 102 (5), pp. e209164. Date of Electronic Publication: 2024 Feb 19.
Autor:
Liu Y; Department of Neuroscience, University of Texas Southwestern Medical Center, 6000 Harry Hines Blvd, Dallas, TX 75390-9111, United States., Lin W; Department of Neuroscience, University of Texas Southwestern Medical Center, 6000 Harry Hines Blvd, Dallas, TX 75390-9111, United States.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Jan 20; Vol. 33 (3), pp. 233-244.
Autor:
Mahesan A; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Kamila G; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Tiwari R; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Das S; Department of Pathology, AIIMS, New Delhi, India., Sharma MC; Department of Pathology, AIIMS, New Delhi, India., Jauhari P; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Chakrabarty B; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India., Gulati S; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Publikováno v:
Neurology India [Neurol India] 2024 Jan 01; Vol. 72 (1), pp. 175-177. Date of Electronic Publication: 2024 Feb 29.