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- [1] Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability[J]. BMC MEDICAL GENETICS, 2015, 16Antoniadi, Thalia论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, EnglandBuxton, Chris论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, EnglandDennis, Gemma论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, EnglandForrester, Natalie论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, EnglandSmith, Debbie论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, EnglandLunt, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Dept Social & Community Med, Bristol BS8 2BN, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, EnglandBurton-Jones, Sarah论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England
- [2] Genetic heterogeneity of motor neuropathies[J]. NEUROLOGY, 2017, 88 (13) : 1226 - 1234Bansagi, Boglarka论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandGriffin, Helen论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandWhittaker, Roger G.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandAntoniadi, Thalia论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Pathol Sci, Southmead Hosp, Bristol, Avon, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandEvangelista, Teresinha论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandMiller, James论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandGreenslade, Mark论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Pathol Sci, Southmead Hosp, Bristol, Avon, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandForester, Natalie论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Pathol Sci, Southmead Hosp, Bristol, Avon, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandDuff, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandBradshaw, Anna论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandKleinle, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Genet, Munich, Germany Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandBoczonadi, Veronika论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandSteele, Hannah论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandRamesh, Venkateswaran论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne Fdn Hosp NHS Trust, Dept Paediat Neurol, Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandFranko, Edit论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Univ Oxford, Nuffield Dept Clin Neurosci, Oxford OX1 2JD, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandPyle, Angela论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandChinnery, Patrick F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Univ Cambridge, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge CB2 1TN, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, EnglandHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Ctr Neuromuscular Dis, MRC, Newcastle Upon Tyne, Tyne & Wear, England
- [3] Clinical implications of genetic advances in Charcot-Marie-Tooth disease[J]. NATURE REVIEWS NEUROLOGY, 2013, 9 (10) : 562 - 571Rossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandPolke, James M.论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England