共 18 条
- [1] Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy[J]. NATURE GENETICS, 2024, 56 (03) : 395 - 407Toepf, Ana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandCox, Dan论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandZaharieva, Irina T.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, England UCL Great Ormond St Inst Child Hlth & Great Ormond, Dubowitz Neuromuscular Ctr, London, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandDi Leo, Valeria论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, England Univ Trieste, Dept Life Sci, Trieste, Italy Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandSarparanta, Jaakko论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med & Clin Genet, Medicum, Helsinki, Finland Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandJonson, Per Harald论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med & Clin Genet, Medicum, Helsinki, Finland Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandSealy, Ian M.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Sch Biol & Behav Sci, London, England Univ Cambridge, Jeffrey Cheah Biomed Ctr, Dept Med, Cambridge Inst Therapeut Immunol & Infect Dis CITI, Cambridge, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandSmolnikov, Andrei论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW, Australia Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandWhite, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Sch Biol & Behav Sci, London, England Univ Cambridge, Jeffrey Cheah Biomed Ctr, Dept Med, Cambridge Inst Therapeut Immunol & Infect Dis CITI, Cambridge, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandVihola, Anna论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med & Clin Genet, Medicum, Helsinki, Finland Tampere Univ, Neuromuscular Res Ctr, Tampere, Finland Univ Hosp, Tampere, Finland Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandSavarese, Marco论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med & Clin Genet, Medicum, Helsinki, Finland Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandMerteroglu, Munise论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Sch Biol & Behav Sci, London, England Univ Padua, Dept Biol, Lab Angiogenesis & Canc Metab, Padua, Italy Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandWali, Neha论文数: 0 引用数: 0 h-index: 0机构: Wellcome Genome Campus, Wellcome Sanger Inst, Hinxton, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandLaricchia, Kristen M.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandVenturini, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London Hosp, Div Infect, London, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandVroling, Bas论文数: 0 引用数: 0 h-index: 0机构: Bioprodict, Nijmegen, Netherlands Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandStenton, Sarah L.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Boston Childrens Hosp, Dept Pediat, Div Genet & Genom, Boston, MA USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandCummings, Beryl B.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biol, Lab Angiogenesis & Canc Metab, Padua, Italy Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandHarris, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, England Inst Genet Med, Northern Genet Serv, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandMarini-Bettolo, Chiara论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandDiaz-Manera, Jordi论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandHenderson, Matt论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, Musculoskeletal Unit, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandBarresi, Rita论文数: 0 引用数: 0 h-index: 0机构: IRCCS San Camillo Hosp, Venice, Italy Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandDuff, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandEngland, Eleina M.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandPatrick, Jane论文数: 0 引用数: 0 h-index: 0机构: Wellcome Genome Campus, Wellcome Sanger Inst, Hinxton, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandAl-Husayni, Sundos论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandBiancalana, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire IGBMC, INSERM, CNRS,UMR7104,U1258, Illkirch Graffenstaden, France Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandBeggs, Alan H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandBodi, Istvan论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp NHS Fdn Trust, Dept Clin Neuropathol, London, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandBommireddipalli, Shobhana论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Kids Neurosci Ctr, Westmead, NSW, Australia Childrens Med Res Inst, Westmead, NSW, Australia Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandBoennemann, Carsten G.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol Disorders & Stroke, Neuromuscular & Neurogenet Disorders Childhood Sec, NIH, Bethesda, MD USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandCairns, Anita论文数: 0 引用数: 0 h-index: 0机构: Queensland Childrens Hosp, Neurosci Dept, Brisbane, Qld, Australia Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandChiew, Mei-Ting论文数: 0 引用数: 0 h-index: 0机构: PathWest Lab Med, Dept Diagnost Genom, Perth, WA, Australia Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandClaeys, Kristl G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, Leuven, Belgium Katholieke Univ Leuven, Dept Neurosci, Lab Muscle Dis & Neuropathies, Leuven, Belgium Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandCooper, Sandra T.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Kids Neurosci Ctr, Westmead, NSW, Australia Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandDavis, Mark R.论文数: 0 引用数: 0 h-index: 0机构: PathWest Lab Med, Dept Diagnost Genom, Perth, WA, Australia Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandDonkervoort, Sandra论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Res Inst, Westmead, NSW, Australia Natl Inst Neurol Disorders & Stroke, Neuromuscular & Neurogenet Disorders Childhood Sec, NIH, Bethesda, MD USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandErasmus, Corrie E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Amalia Childrens Hosp, Donders Inst Brain Cognit & Behav, Dept Pediat Neurol, Nijmegen, Netherlands Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandFassad, Mahmoud R.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Translat & Clin Res Inst, Fac Med Sci, Newcastle Upon Tyne, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandGenetti, Casie A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandGrosmann, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Rady Childrens Hosp, Dept Neurol, San Diego, CA USA Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandJungbluth, Heinz论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Dept Paediat Neurol Neuromuscular Serv, London, England Kings Coll London, Fac Life Sci & Med FoLSM, Randall Ctr Cell & Mol Biophys, Muscle Signalling Sect, London, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandLornage, Xaviere论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire IGBMC, INSERM, CNRS,UMR7104,U1258, Illkirch Graffenstaden, France Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandLoescher, Wolfgang N.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandMalfatti, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Est, Henri Mondor Hosp, Neuromuscular Reference Ctr Nord Est Ile De France, APHP,U955,INSERM, Creteil, France Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandManzur, Adnan论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth & Great Ormond, Dubowitz Neuromuscular Ctr, London, England Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandMarti, Pilar论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain IIS La Fe, Neuromuscular Res Unit, Valencia, Spain Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, EnglandMongini, Tiziana E.论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci Rita Levi Montalcini, Turin, Italy Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England
- [2] Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy[J]. Nature Genetics, 2024, 56 : 395 - 407Ana Töpf论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesDan Cox论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesIrina T. Zaharieva论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesValeria Di Leo论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesJaakko Sarparanta论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesPer Harald Jonson论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesIan M. Sealy论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesAndrei Smolnikov论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesRichard J. White论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesAnna Vihola论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesMarco Savarese论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesMunise Merteroglu论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesNeha Wali论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesKristen M. Laricchia论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesCristina Venturini论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesBas Vroling论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesSarah L. Stenton论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesBeryl B. Cummings论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesElizabeth Harris论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesChiara Marini-Bettolo论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesJordi Diaz-Manera论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesMatt Henderson论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesRita Barresi论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesJennifer Duff论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesEleina M. England论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesJane Patrick论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesSundos Al-Husayni论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesValerie Biancalana论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesAlan H. Beggs论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesIstvan Bodi论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesShobhana Bommireddipalli论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesCarsten G. Bönnemann论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesAnita Cairns论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesMei-Ting Chiew论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesKristl G. Claeys论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesSandra T. Cooper论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesMark R. Davis论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesSandra Donkervoort论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesCorrie E. Erasmus论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesMahmoud R. Fassad论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesCasie A. Genetti论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesCarla Grosmann论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesHeinz Jungbluth论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesErik-Jan Kamsteeg论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesXavière Lornage论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesWolfgang N. Löscher论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesEdoardo Malfatti论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesAdnan Manzur论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesPilar Martí论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life SciencesTiziana E. Mongini论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Research Centre,Department of Life Sciences
- [3] Nemaline myopathy associated with dominant inheritance and mutations in the skeletal muscle alpha-actin gene[J]. NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 624 - 624Iannaccone, ST论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USASchnell, C论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USAMuirhead, D论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USAHouston, R论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USARomero, B论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USABurns, D论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USAStrickland, CD论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USAMidgett, C论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USARyan, M论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USABeggs, A论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USATilton, AH论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dallas, TX 75219 USA
- [4] Nenaline myopathy with unusual oculo-muscolo-skeletal muscle phenotype due to nebulin deletion[J]. JOURNAL OF NEUROLOGY, 2012, 259 : S181 - S181Angelini, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Padua, ItalyWallgren-Petterson, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Padua, ItalyLehtokan, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Padua, ItalyCodemo, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Padua, ItalySemplicini, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Padua, ItalyPegoraro, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Padua, Italy
- [5] Genotype phenotype correlation in individuals with nemaline myopathy due to skeletal muscle actin gene mutations[J]. PEDIATRIC RESEARCH, 2003, 53 (04) : 260A - 260AAgrawal, PB论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Dept Pediat, Boston, MA 02115 USAStrickland, CD论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Dept Pediat, Boston, MA 02115 USAMidgett, C论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Dept Pediat, Boston, MA 02115 USARyan, M论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Dept Pediat, Boston, MA 02115 USAPoulos, MA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Dept Pediat, Boston, MA 02115 USANewburger, DE论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Dept Pediat, Boston, MA 02115 USABeggs, AH论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Dept Pediat, Boston, MA 02115 USA
- [6] Evidence for a pro-apoptotic phenotype in skeletal muscle of hypertensive rats[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2008, 368 (01) : 168 - 174Quadrilatero, Joe论文数: 0 引用数: 0 h-index: 0机构: Univ Waterloo, Dept Kinesiol, Waterloo, ON N2L 3G1, Canada Univ Waterloo, Dept Kinesiol, Waterloo, ON N2L 3G1, CanadaRush, James W. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Waterloo, Dept Kinesiol, Waterloo, ON N2L 3G1, Canada Univ Waterloo, Dept Kinesiol, Waterloo, ON N2L 3G1, Canada
- [7] Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin[J]. NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 461 - 470Wallgren-Pettersson, C论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, Finland Univ Helsinki, Dept Med Genet, Helsinki, FinlandPelin, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandNowak, KJ论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandRomero, NB论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandGoebel, HH论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandNorth, KN论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandBeggs, AH论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandLaing, NG论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, Finland
- [8] Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene[J]. NEUROMUSCULAR DISORDERS, 2001, 11 (01) : 35 - 40Jungbluth, H论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandSewry, CA论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandBrown, SC论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandNowak, KJ论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandLaing, NG论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandWallgren-Pettersson, C论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandPelin, K论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandManzur, AY论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandMercuri, E论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandDubowitz, V论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, England
- [9] About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle[J]. JOURNAL OF NEUROLOGY, 2005, 252 : 25 - 26Toscano, A论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyMongini, T论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyMusumeci, O论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyRodolico, C论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyMorena, S论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyVercelli, L论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyAnatrone, K论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyPalmucci, L论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, ItalyVita, G论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Messina, Italy
- [10] Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy[J]. JOURNAL OF MEDICAL GENETICS, 2021, 58 (09) : 602 - 608Geraud, Justine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, France论文数: 引用数: h-index:机构:Rendu, John论文数: 0 引用数: 0 h-index: 0机构: Grenoble Alpes Univ Hosp, INSERM U1216, Grenoble, France Univ Grenoble Alpes, INSERM U1216, Grenoble, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceCoste, Emmanuelle Uro论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Dept Pathol, Canc Res Ctr Toulouse CRCT, INSERM U1037, Toulouse, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceDobrzynski, Murielle论文数: 0 引用数: 0 h-index: 0机构: Brest Univ Hosp Ctr, Matern Dept, Brest, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceMarcorelle, Pascale论文数: 0 引用数: 0 h-index: 0机构: Brest Univ Hosp, Morvan Hosp, Pathol Dept, Brest, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceIoos, Christine论文数: 0 引用数: 0 h-index: 0机构: Garches Univ Hosp Ctr, Neuropediat Dept, Garches, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceRomero, Norma Beatriz论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, CNRS, UMRS974,CNRS FRE3617,Ctr Res Myol,INSERM, Paris, France Pitie Salpetriere Univ Hosp, AP HP, Myol Inst, Paris, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceBaudou, Eloise论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceBrocard, Julie论文数: 0 引用数: 0 h-index: 0机构: Grenoble Alpes Univ Hosp, INSERM U1216, Grenoble, France Univ Grenoble Alpes, INSERM U1216, Grenoble, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceCoville, Anne-Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceFaure, Julien论文数: 0 引用数: 0 h-index: 0机构: Grenoble Alpes Univ Hosp, INSERM U1216, Grenoble, France Univ Grenoble Alpes, INSERM U1216, Grenoble, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceKoenig, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier Univ Hosp Ctr, LGMR, Mol Genet Lab, Montpellier, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceMorales, Raul Juntas论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier Univ Hosp Ctr, LGMR, Mol Genet Lab, Montpellier, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceLacene, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, CNRS, UMRS974,CNRS FRE3617,Ctr Res Myol,INSERM, Paris, France Pitie Salpetriere Univ Hosp, AP HP, Myol Inst, Paris, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceMadelaine, Angeline论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, CNRS, UMRS974,CNRS FRE3617,Ctr Res Myol,INSERM, Paris, France Pitie Salpetriere Univ Hosp, AP HP, Myol Inst, Paris, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceMarty, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Grenoble Alpes Univ Hosp, INSERM U1216, Grenoble, France Univ Grenoble Alpes, INSERM U1216, Grenoble, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FrancePegeot, Henri论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier Univ Hosp Ctr, LGMR, Mol Genet Lab, Montpellier, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceTheze, Corinne论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier Univ Hosp Ctr, LGMR, Mol Genet Lab, Montpellier, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceSiegfried, Aurore论文数: 0 引用数: 0 h-index: 0机构: Univ Grenoble Alpes, INSERM U1216, Grenoble, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceCossee, Mireille论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier Univ Hosp Ctr, LGMR, Mol Genet Lab, Montpellier, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, FranceCances, Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, France Univ Hosp Ctr Toulouse, Neuropediat Dept, Toulouse, France