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- [1] A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1CNeuroMolecular Medicine, 2019, 21 : 182 - 191Saranya Suriyanarayanan论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryAlaa Othman论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryBianca Dräger论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryAnja Schirmacher论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryPeter Young论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryLejla Mulahasanovic论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryKonstanze Hörtnagel论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistrySaskia Biskup论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryArnold von Eckardstein论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryThorsten Hornemann论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical ChemistryMuseer A. Lone论文数: 0 引用数: 0 h-index: 0机构: University Hospital Zurich,Institute for Clinical Chemistry
- [2] A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1CNEUROMOLECULAR MEDICINE, 2019, 21 (02) : 182 - 191Suriyanarayanan, Saranya论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, Switzerland Competence Ctr Personalized Med CC PM, Zurich, Switzerland Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, Switzerland论文数: 引用数: h-index:机构:Draeger, Bianca论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Muenster, Dept Sleep Med & Neuromuscular Disorders, Munster, Germany Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandSchirmacher, Anja论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Muenster, Dept Sleep Med & Neuromuscular Disorders, Munster, Germany Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandYoung, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Muenster, Dept Sleep Med & Neuromuscular Disorders, Munster, Germany Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandMulahasanovic, Lejla论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Praxis Humangenet Tubingen, Tubingen, Germany Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandHoertnagel, Konstanze论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Praxis Humangenet Tubingen, Tubingen, Germany Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Praxis Humangenet Tubingen, Tubingen, Germany Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandVon Eckardstein, Arnold论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, Switzerland Competence Ctr Personalized Med CC PM, Zurich, Switzerland Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandHornemann, Thorsten论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, Switzerland Competence Ctr Personalized Med CC PM, Zurich, Switzerland Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, SwitzerlandLone, Museer A.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, Switzerland Univ Zurich, Univ Hosp Zurich, Inst Clin Chem, Wagistr 14 Schlieren, CH-8952 Zurich, Switzerland
- [3] Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2NEUROLOGY, 2013, 80 (23) : 2106 - 2111Murphy, Sinead M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England Adelaide & Meath Hosp Incorporating Natl Children, Dept Neurol, Dublin, Ireland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandErnst, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich Hosp, Inst Clin Chem, Zurich, Switzerland Univ Zurich Hosp, Inst Physiol, Zurich, Switzerland Univ Zurich Hosp, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandWei, Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich Hosp, Inst Clin Chem, Zurich, Switzerland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandLaura, Matilde论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandLiu, Yo-Tsen论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England Taipei Vet Gen Hosp, Neurol Inst, Dept Neurol, Taipei, Taiwan Natl Yang Ming Univ, Sch Med, Taipei 112, Taiwan UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandPolke, James论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandBlake, Julian论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Dept Clin Neurophysiol, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, London, England Norfolk & Norwich Univ Hosp, Dept Clin Neurophysiol, Norwich, Norfolk, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandWiner, John论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Hosp, Dept Clin Neurosci, Birmingham B15 2TH, W Midlands, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandHornemann, Thorsten论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich Hosp, Inst Clin Chem, Zurich, Switzerland Univ Zurich Hosp, Inst Physiol, Zurich, Switzerland Univ Zurich Hosp, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England
- [4] Hereditary Sensory and Autonomic Neuropathy Type IC with SPTLC2 Mutation Associated with Immune ThrombocytopeniaINDIAN JOURNAL OF MEDICAL SPECIALITIES, 2022, 13 (03) : 203 - 204Abdulla, Mansoor C.论文数: 0 引用数: 0 h-index: 0机构: Nizar Hosp, Dept Gen Med, Valancheri, Kerala, India Nizar Hosp, Dept Gen Med, Valancheri, Kerala, India
- [5] Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type IAMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (04) : 513 - 522Rotthier, Annelies论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumAuer-Grumbach, Michaela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Dept Internal Med, Div Endocrinol & Metab, A-8036 Graz, Austria Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumJanssens, Katrien论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumBaets, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp Hosp, Dept Neurol, B-2650 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumPenno, Anke论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich Hosp, Inst Clin Chem, CH-8091 Zurich, Switzerland Competence Ctr Syst Physiol & Metab Dis, CH-8093 Zurich, Switzerland Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumAlmeida-Souza, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumVan Hoof, Kim论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumJacobs, An论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumDe Vriendt, Els论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumSchlotter-Weigel, Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumLoscher, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Innsbruck Med Univ, Dept Neurol, A-6020 Innsbruck, Austria Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumVondracek, Petr论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp & Masaryk Univ, Dept Paediat Neurol, CZ-61300 Brno, Czech Republic Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumSeeman, Pavel论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Sch Med Prague 2, Dept Child Neurol, CZ-15006 Prague, Czech Republic Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumDe Jonghe, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp Hosp, Dept Neurol, B-2650 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumVan Dijck, Patrick论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, VIB Dept Mol Microbiol, Mol Cell Biol Lab, B-3001 Louvain, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumJordanova, Albena论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumHornemann, Thorsten论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich Hosp, Inst Clin Chem, CH-8091 Zurich, Switzerland Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland Univ Zurich, Zurich Ctr Integrat Human Physiol ZIHP, CH-8057 Zurich, Switzerland Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, BelgiumTimmerman, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2610 Antwerp, Belgium Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2610 Antwerp, Belgium
- [6] Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2NEUROMUSCULAR DISORDERS, 2012, 22 : S19 - S19Murphy, S. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Adelaide & Meath Hosp Inc Natl Childrens Hosp, Dublin, Ireland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandLaura, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandErnst, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich Hosp, Inst Clin Chem, CH-8091 Zurich, Switzerland Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland Univ Zurich, Zurich Ctr Integrat Human Physiol ZIHP, CH-8057 Zurich, Switzerland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandLiu, Y. -T.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandBlake, J.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, Dept Clin Neurophysiol, London WC1N 3BG, England Norfolk & Norwich Univ Hosp, Dept Clin Neurophysiol, Norwich NR4 7UY, Norfolk, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandDonaghy, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, John Radcliffe Hosp, Dept Clin Neurol, Oxford OX3 9DU, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandWiner, J.论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Hosp, Dept Clin Neurosci, Birmingham B15 2TH, W Midlands, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandHoulden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandHornemann, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich Hosp, Inst Clin Chem, CH-8091 Zurich, Switzerland Univ Zurich, Inst Physiol, CH-8057 Zurich, Switzerland Univ Zurich, Zurich Ctr Integrat Human Physiol ZIHP, CH-8057 Zurich, Switzerland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandReilly, M. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England
- [7] A NOVEL MISSENSE MUTATION OF SPTLC1 IN HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY (HSAN) TYPE 1JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 : S6 - S7Boso, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyTaioli, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyFerrarini, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyMarangi, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyCavallaro, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyFabrizi, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy
- [8] SPTLC1 is mutated in hereditary sensory neuropathy, type 1NATURE GENETICS, 2001, 27 (03) : 261 - 262Bejaoui, K论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USAWu, CY论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USASheffler, MD论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USAHaan, G论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USAAshby, P论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USAWu, LC论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USAde Jong, P论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USABrown, RH论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USA Massachusetts Gen Hosp E, CB Day Lab Neuromuscular Res, Charlestown, MA USA
- [9] SPTLC1 is mutated in hereditary sensory neuropathy, type 1Nature Genetics, 2001, 27 : 261 - 262Khemissa Bejaoui论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,Chenyan Wu论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,Margaret D. Scheffler论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,Geoffry Haan论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,Peter Ashby论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,Lianchan Wu论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,Peter de Jong论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,Robert H. Brown论文数: 0 引用数: 0 h-index: 0机构: C.B. Day Laboratory for Neuromuscular Research,
- [10] A new variant in the WNK1 gene causing Hereditary Sensory and Autonomic Neuropathy type 2EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 370 - 370Antunes, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Garcia de Orta, Neurol, Almada, Portugal Hosp Garcia de Orta, Neurol, Almada, PortugalFonseca, M. J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Garcia de Orta, Ctr Desenvolvimento Crianca, Almada, Portugal Hosp Garcia de Orta, Neurol, Almada, PortugalTaipa, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santo Antonio, Ctr Hosp Porto, Dept Neurol, Porto, Portugal Hosp Santo Antonio, Ctr Hosp Porto, Neuropathol Unit, Porto, Portugal Hosp Garcia de Orta, Neurol, Almada, PortugalGuimaraes, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santo Antonio, Ctr Hosp Porto, Dept Neurol, Porto, Portugal Hosp Santo Antonio, Ctr Hosp Porto, Neuropathol Unit, Porto, Portugal Hosp Garcia de Orta, Neurol, Almada, PortugalAlonso, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Mol & Cell Biol, Porto, Portugal Hosp Garcia de Orta, Neurol, Almada, PortugalPereira, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Garcia de Orta, Neurol, Almada, Portugal Hosp Garcia de Orta, Neurol, Almada, Portugal