共 50 条
- [1] Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingNature Genetics, 2014, 46 : 188 - 193Clare V Logan论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyGyörgy Szabadkai论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyJenny A Sharpe论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyDavid A Parry论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologySilvia Torelli论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyAnne-Marie Childs论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyMarjolein Kriek论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyRahul Phadke论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyColin A Johnson论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyNicola Y Roberts论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyDavid T Bonthron论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyKaren A Pysden论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyTamieka Whyte论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyIulia Munteanu论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyA Reghan Foley论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyGabrielle Wheway论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyKatarzyna Szymanska论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologySubaashini Natarajan论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyZakia A Abdelhamed论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyJoanne E Morgan论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyHelen Roper论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyGijs W E Santen论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyErik H Niks论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyW Ludo van der Pol论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyDick Lindhout论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyAnna Raffaello论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyDiego De Stefani论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyJohan T den Dunnen论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyYu Sun论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyIeke Ginjaar论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyCaroline A Sewry论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyMatthew Hurles论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyRosario Rizzuto论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyMichael R Duchen论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyFrancesco Muntoni论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyEamonn Sheridan论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental Biology
- [2] Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingNATURE GENETICS, 2014, 46 (02) : 188 - +Logan, Clare V.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSzabadkai, Gyoergy论文数: 0 引用数: 0 h-index: 0机构: UCL, Consortium Mitochondrial Res, Dept Cell & Dev Biol, London, England Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSharpe, Jenny A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Consortium Mitochondrial Res, Dept Cell & Dev Biol, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandParry, David A.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandTorelli, Silvia论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandChilds, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandKriek, Marjolein论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandPhadke, Rahul论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England MRC, Ctr Neuromuscular Dis, UCL Inst Neurol, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandJohnson, Colin A.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandRoberts, Nicola Y.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandBonthron, David T.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandPysden, Karen A.论文数: 0 引用数: 0 h-index: 0机构: Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandWhyte, Tamieka论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandMunteanu, Iulia论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandFoley, A. Reghan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandWheway, Gabrielle论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSzymanska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandNatarajan, Subaashini论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandAbdelhamed, Zakia A.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandMorgan, Joanne E.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandRoper, Helen论文数: 0 引用数: 0 h-index: 0机构: Birmingham Heartlands Hosp, Dept Paediat, Birmingham B9 5ST, W Midlands, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSanten, Gijs W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandNiks, Erik H.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurol, Med Ctr, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, Englandvan der Pol, W. Ludo论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol & Neurosurg, Utrecht, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandLindhout, Dick论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandRaffaello, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandDe Stefani, Diego论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, Englandden Dunnen, Johan T.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSun, Yu论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandGinjaar, Ieke论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSewry, Caroline A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England Robert Jones & Agnes Hunt Orthopaed Hosp, Wolfson Ctr Inherited Neuromuscular Dis, Oswestry SY10 7AG, Shrops, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandHurles, Matthew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandRizzuto, Rosario论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandDuchen, Michael R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Consortium Mitochondrial Res, Dept Cell & Dev Biol, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSheridan, Eamonn论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England
- [3] Insights into the genesis of a brain and muscle disorder caused by a novel mutation in MICU1NEUROMUSCULAR DISORDERS, 2017, 27 : S117 - S117Roos, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandTopf, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandPhan, V.论文数: 0 引用数: 0 h-index: 0机构: Leibniz Inst Analyt Sci, Dortmund, Germany Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandCoraspe, J. Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandHauessler, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Aachen, Germany Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandWeis, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Aachen, Germany Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandLochmuller, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandKohlsclunidt, N.论文数: 0 引用数: 0 h-index: 0机构: Inst Clin Genet, Bonn, Germany Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England
- [4] Functional Characterization of Ankyrin Loss-Of-Function Mutations Associated With Autism Spectrum DisorderNEUROPSYCHOPHARMACOLOGY, 2016, 41 : S552 - S553Garza, Jacob论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA USA Harvard Med Sch, Boston, MA USAPetryshen, Tracey论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA USA Harvard Med Sch, Boston, MA USA
- [5] The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutationsEPILEPSIA, 2016, 57 (10) : 1651 - 1659Holder, J. Lloyd, Jr.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, 1250 Moursund St,Suite 1350, Houston, TX 77030 USA Texas Childrens Hosp, 1250 Moursund St,Suite 1350, Houston, TX 77030 USAQuach, Michael M.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, 1250 Moursund St,Suite 1350, Houston, TX 77030 USA
- [6] Phenotypic spectrum associated with CASK loss-of-function mutationsJOURNAL OF MEDICAL GENETICS, 2011, 48 (11) : 741 - 751Moog, Ute论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyChilian, Bettina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBierhals, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyApeshiotis, Neophytos论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBalg, Stefanie论文数: 0 引用数: 0 h-index: 0机构: MGZ Munchen, Med Genet Zentrum, Munich, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyChassaing, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Dept Med Genet, Toulouse, France UPS III EA4555, Toulouse, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyCoubes, Christine论文数: 0 引用数: 0 h-index: 0机构: A de Villeneuve Hosp, Genet Serv, Montpellier, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyDas, Soma论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyVan Esch, Hilde论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Ctr Human Genet, Louvain, Belgium Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyGrasshoff, Ute论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Med Genet, Inst Human Genet, Tubingen, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyHeise, Marisol论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Nantes, Clin Genet Unit, Nantes, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyJarvis, Joanna论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, Clin Genet Unit, Birmingham, W Midlands, England Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKoehler, Udo论文数: 0 引用数: 0 h-index: 0机构: MGZ Munchen, Med Genet Zentrum, Munich, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyMartin, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyOehl-Jaschkowitz, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyOrtibus, Els论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Pediat Neurol, Louvain, Belgium Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyPilz, Daniela T.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyPrabhakar, Prab论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyRappold, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyRau, Isabella论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyRettenberger, Guenther论文数: 0 引用数: 0 h-index: 0机构: Genetikum, Neu Ulm, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanySchlueter, Gregor论文数: 0 引用数: 0 h-index: 0机构: Pranatalmed & Genet Nurnberg Bayreuth MVZ, Nurnberg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyScott, Richard H.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Clin Genet, London WC1N 3JH, England Inst Child Hlth, London, England Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyShoukier, Moonef论文数: 0 引用数: 0 h-index: 0机构: Univ Goettingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyWohlleber, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyZirn, Birgit论文数: 0 引用数: 0 h-index: 0机构: Univ Goettingen, Dept Neuropediat, Gottingen, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyDobyns, William B.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Dept Pediat, Seattle, WA USA Seattle Childrens Res Inst, Dept Neurol, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyUyanik, Goekhan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany
- [7] Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological reportBRAIN & DEVELOPMENT, 2015, 37 (07): : 719 - 724Montassir, Hesham论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan Cairo Univ, Fac Med, Dept Family Med, Cairo, Egypt Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanMaegaki, Yoshihiro论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanMurayama, Kei论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Metab, Chiba, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanYamazaki, Taro论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Sch Med, Dept Pediat, Saitama, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanKohda, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Res Ctr Genom Med, Div Translat Res, Hidaka, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanOhtake, Akira论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Sch Med, Dept Pediat, Saitama, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanIwasa, Hiroyasu论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Res Ctr Genom Med, Div Translat Res, Hidaka, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanYatsuka, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Div Funct Genom & Syst Med, Res Ctr Genom Med, Hidaka, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanOkazaki, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Res Ctr Genom Med, Div Translat Res, Hidaka, Japan Saitama Med Univ, Div Funct Genom & Syst Med, Res Ctr Genom Med, Hidaka, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanSugiura, Chitose论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanNagata, Ikuo论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Pediat & Perinatol, Fac Med, Yonago, Tottori 6838504, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, JapanToyoshima, Mitsuo论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Pediat, Kagoshima 890, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan论文数: 引用数: h-index:机构:Itoh, Masayuki论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan论文数: 引用数: h-index:机构:Ohno, Kousaku论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan Tottori Univ, Div Child Neurol, Fac Med, Yonago, Tottori 6838504, Japan
- [8] ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (06) : 1021 - 1033Cuvertino, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandStuart, Helen M.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England Manchester Univ Fdn NHS Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandChandler, Kate E.论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ Fdn NHS Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandRoberts, Neil A.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandArmstrong, Ruth论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Dept Clin Genet, East Anglian Med Genet Serv, Cambridge CB2 0QQ, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandBernardini, Laura论文数: 0 引用数: 0 h-index: 0机构: Casa Sollievo Sofferenza Hosp, Cytogenet Unit, I-71013 San Giovanni Rotondo, Italy Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandBhaskar, Sanjeev论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ Fdn NHS Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandCallewaert, Bert论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England论文数: 引用数: h-index:机构:Hernando Davalillo, Cristina论文数: 0 引用数: 0 h-index: 0机构: Quantitat Genom Med Labs qGen, Barcelona 08950, Spain Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandDeshpande, Charu论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Cell Matrix Biol & Regenerat Med, Manchester M13 9PL, Lancs, England Guys Hosp, Clin Genet Dept, London SE1 9RT, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandDevriendt, Koenraad论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, B-3000 Leuven, Belgium Univ Hosp Leuven, B-3000 Leuven, Belgium Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandDigilio, Maria C.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Med Genet, I-00165 Rome, Italy Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandDixit, Abhijit论文数: 0 引用数: 0 h-index: 0机构: Nottingham City Hosp, Dept Clin Genet, Nottingham NG5 1PB, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandEdwards, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ Western Sydney, Sch Med, Dept Paediat, Penrith, NSW 2751, Australia Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandFriedman, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandGonzalez-Meneses, Antonio论文数: 0 引用数: 0 h-index: 0机构: Hosp Viamed Santa Angela Cruz, Serv Pediat, Seville 41014, Spain Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandJoss, Shelagh论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Genet Serv, Glasgow G51 4TF, Lanark, Scotland Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandKerr, Bronwyn论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ Fdn NHS Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandLampe, Anne Katrin论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Clin Genet Dept, Edinburgh EH4 2XU, Midlothian, Scotland Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandLanglois, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandLennon, Rachel论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Wellcome Ctr Cell Matrix Res,Div Cell Matrix Biol, Manchester M13 9PL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandLoget, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Rennes 1, Hop Pontchaillou, Serv Anat Pathol, F-35000 Rennes, France Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandMa, David Y. T.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandMcGowan, Ruth论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Genet Serv, Glasgow G51 4TF, Lanark, Scotland Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandDes Medt, Maryse论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, B-3000 Leuven, Belgium Univ Hosp Leuven, B-3000 Leuven, Belgium Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England论文数: 引用数: h-index:机构:Odent, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Rennes 1, UMR 6290, Hop SUD, Serv Genet Clin,Ctr Reference Malad Rares CLAD Ou, F-35000 Rennes, France Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandParker, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Western Bank, Sheffield S20 1NZ, S Yorkshire, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandPebrel-Richard, Celine论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg Clermont Ferrand, Serv Cytogenet Med, F-63000 Clermont Ferrand, France Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandPetit, Florence论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg Lille, Serv Genet Clin, F-59000 Lille, France Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandStark, Zornitza论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandStockler-Ipsiroglu, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandTinschert, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Zentrum Med Genet, A-6020 Innsbruck, Austria Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandVasudevan, Pradeep论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leicester NHS Trust, Leicester Royal Infirm, Dept Clin Genet, Leicester LE1 5WW, Leics, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandVilla, Olaya论文数: 0 引用数: 0 h-index: 0机构: Quantitat Genom Med Labs qGen, Barcelona 08950, Spain Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandWhite, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic 3010, Australia Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandZahir, Farah R.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada Hamad Bin Khalifa Univ, Qatar Biomed Res Inst, Doha 34110, Qatar Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandWoolf, Adrian S.论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Manchester Acad Hlth Sci Ctr, Dept Nephrol, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, EnglandBanka, Siddharth论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England Manchester Univ Fdn NHS Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England
- [9] LOSS-OF-FUNCTION MUTATIONS IN HARS CAUSE A SPECTRUM OF INHERITED PERIPHERAL NEUROPATHIESJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (02) : 109 - 109Brozkova, D. S.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic Motol Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicDeconinck, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, VIB Dept Mol Genet, Neurogenet Grp, B-2020 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicGriffin, L. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Cellular & Mol Biol Program, Ann Arbor, MI USA Univ Michigan, Sch Med, Med Scientist Training Program, Ann Arbor, MI USA Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicFerbert, A.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Kassel, Dept Neurol, Kassel, Germany Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicHabedova, J.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic Motol Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicMazanec, R.论文数: 0 引用数: 0 h-index: 0机构: Motol Univ Hosp, Prague, Czech Republic Charles Univ Prague, Dept Neurol, Fac Med 2, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic论文数: 引用数: h-index:机构:Roth, C.论文数: 0 引用数: 0 h-index: 0机构: Klinikum Kassel, Dept Neurol, Kassel, Germany Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic论文数: 引用数: h-index:机构:Rautenstrauss, B.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Zentrum, Munich, Germany Univ Munich, Dept Neurol, Friedrich Baur Inst, D-80539 Munich, Germany Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicJanecke, A. R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Pediat, A-6020 Innsbruck, Austria Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicZavadakova, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicChrast, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic论文数: 引用数: h-index:机构:Zuchner, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T McDonald Fdn Dept Human Genet, John P Hussman Inst Human Genom, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicAntonellis, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Cellular & Mol Biol Program, Ann Arbor, MI USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Univ Michigan, Sch Med, Dept Neurol, Ann Arbor, MI USA Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicBeg, A. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Pharmacol, Ann Arbor, MI 48109 USA Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicDe Jonghe, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, VIB Dept Mol Genet, Neurogenet Grp, B-2020 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicSenderek, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-80539 Munich, Germany Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicSeeman, P.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic Motol Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech RepublicBaets, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, VIB Dept Mol Genet, Neurogenet Grp, B-2020 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, DNA Lab, Prague, Czech Republic
- [10] Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomasNATURE GENETICS, 2014, 46 (02) : 182 - +论文数: 引用数: h-index:机构:Xie, Jing论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USALiu, Ying F.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAPoplawski, Andrzej B.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAGomes, Alicia R.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA论文数: 引用数: h-index:机构:Fu, Chuanhua论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USACrowley, Michael R.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Heflin Ctr Genom Sci, Birmingham, AL USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USACrossman, David K.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Heflin Ctr Genom Sci, Birmingham, AL USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAArmstrong, Linlea论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USABabovic-Vuksanovic, Dusica论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Clin Coll Med, Dept Med Genet, Rochester, MN USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USABergner, Amanda论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Comprehens Neurofibromatosis Ctr, Baltimore, MD USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USABlakeley, Jaishri O.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Comprehens Neurofibromatosis Ctr, Baltimore, MD USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USABlumenthal, Andrea L.论文数: 0 引用数: 0 h-index: 0机构: Lakeridge Hlth Corp, Oshawa, ON, Canada Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USADaniels, Molly S.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Houston, MD Anderson Canc Ctr, Clin Canc Genet Program, Houston, TX 77030 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAFeit, Howard论文数: 0 引用数: 0 h-index: 0机构: Henry Ford Hosp, Dept Neurol, Detroit, MI 48202 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAGardner, Kathy论文数: 0 引用数: 0 h-index: 0机构: Vet Adm Hosp Pittsburgh, Dept Neurol, Pittsburgh, PA USA Univ Pittsburgh, Pittsburgh, PA USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAHurst, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Lakeridge Hlth Corp, Oshawa, ON, Canada Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAKobelka, Christine论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Genet Northern Calif, San Francisco, CA USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USALee, Chung论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, Dept Pediat, San Francisco, CA 94143 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USANagy, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Wexner Med Ctr, Div Human Genet, Dept Internal Med, Columbus, OH 43210 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USARauen, Katherine A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, Dept Pediat, San Francisco, CA 94143 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USASlopis, John M.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Houston, MD Anderson Canc Ctr, Dept Neurooncol, Houston, TX 77030 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USASuwannarat, Pim论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Genet Northern Calif, San Francisco, CA USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAWestman, Judith A.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Wexner Med Ctr, Div Human Genet, Dept Internal Med, Columbus, OH 43210 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAZanko, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, Dept Pediat, San Francisco, CA 94143 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAKorf, Bruce R.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USAMessiaen, Ludwine M.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA Univ Alabama Birmingham, Dept Genet, Med Genom Lab, Birmingham, AL 35203 USA