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- [1] DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlationJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2023, 28 (03) : 508 - 512Menon, Poornima Jayadev论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Neurol, Dublin, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, IrelandBogdanova-Mihaylova, Petya论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Neurol, Dublin, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, IrelandMcDermott, Garret论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Neuropsychol, Dublin, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, IrelandCrowley, Paul论文数: 0 引用数: 0 h-index: 0机构: Aut Even Hosp, Dept Neurol, Kilkenny, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, IrelandKilleen, Ronan P. P.论文数: 0 引用数: 0 h-index: 0机构: St Vincents Univ Hosp, Dept Radiol, Dublin, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, IrelandAlexander, Michael D. D.论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Neurophysiol, Dublin, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, IrelandO'Dowd, Sean论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Neurol, Dublin, Ireland Trinity Coll Dublin, Acad Unit Neurol, Dublin, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, IrelandMurphy, Sinead M.论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Neurol, Dublin, Ireland Trinity Coll Dublin, Acad Unit Neurol, Dublin, Ireland Tallaght Univ Hosp, Dept Neurol, Dublin, Ireland
- [2] Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 MutationCEREBELLUM, 2025, 24 (01):Sossamon, Jake论文数: 0 引用数: 0 h-index: 0机构: Med Univ South Carolina, Coll Med, 171 Ashley Ave, Charleston, SC 29425 USA Med Univ South Carolina, Coll Med, 171 Ashley Ave, Charleston, SC 29425 USAO'Connell, Patrick论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Mt Sinai Kravis Childrens Hosp, New York, NY 10029 USA Med Univ South Carolina, Coll Med, 171 Ashley Ave, Charleston, SC 29425 USARastall, David P. W.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Johns Hopkins Hosp, Dept Neurol, Div Neurovisual & Vestibular Disorders,Sch Med, 600 N Wolfe St, Baltimore, MD 21218 USA Med Univ South Carolina, Coll Med, 171 Ashley Ave, Charleston, SC 29425 USA
- [3] Clinical phenotype of patients with narcolepsy with cataplexy, cerebellar ataxia, deafness and neuropathy associated to DNMT1 gene mutationJOURNAL OF SLEEP RESEARCH, 2012, 21 : 311 - 311论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Poli, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Bologna, Italy Univ Bologna, Bologna, ItalyFranceschini, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Bologna, Italy Univ Bologna, Bologna, Italy论文数: 引用数: h-index:机构:Carelli, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Bologna, Italy Univ Bologna, Bologna, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Winkelmann, J.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Munich, Germany Univ Bologna, Bologna, ItalyMignot, E.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Palo Alto, CA 94304 USA Univ Bologna, Bologna, Italy论文数: 引用数: h-index:机构:
- [4] DNMT1 links aberrant DNA methylation to hereditary sensory neuropathyCLINICAL GENETICS, 2011, 80 (03) : 240 - U1401Ghannad, M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Ctr Mol Med & Therapeut, Vancouver, BC V5Z 4H4, Canada Univ British Columbia, Dept Med Genet, Ctr Mol Med & Therapeut, Vancouver, BC V5Z 4H4, Canada
- [5] NEW NARCOLEPSY-ATAXIA AND NEUROPATHY PHENOTYPE NOT ASSOCIATED WITH DNMT1SLEEP MEDICINE, 2022, 100 : S162 - S162Navarrete Perez, J. J.论文数: 0 引用数: 0 h-index: 0机构: Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, Spain Univ Autonoma Madrid, Anat Histol & Neurosci, Madrid, Spain Fdn Tatiana Perez de Guzman el Bueno, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, SpainOjerda, J.论文数: 0 引用数: 0 h-index: 0机构: Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, Spain Hosp Univ Infanta Sofia, Neurol, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, SpainCarrera-Canas, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Anat Histol & Neurosci, Madrid, Spain Fdn Tatiana Perez de Guzman el Bueno, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, SpainCallejo, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Anat Histol & Neurosci, Madrid, Spain Fdn Tatiana Perez de Guzman el Bueno, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, SpainSanz, R.论文数: 0 引用数: 0 h-index: 0机构: ATG Med Genet Test Ctr, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, Spainde Andres, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Anat Histol & Neurosci, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, SpainGarzon, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Anat Histol & Neurosci, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, Spaindel Rio-Villegas, R.论文数: 0 引用数: 0 h-index: 0机构: Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, Spain Vithas Madrid Arturo Soria Hosp, Neurol, Madrid, Spain
- [6] Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IEBMC Neurology, 18Wenxia Zheng论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyZhenxing Yan论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyRongni He论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyYaowei Huang论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyAiqun Lin论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyWei Huang论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyYuying Su论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyShaoyuan Li论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyVictor Wei Zhang论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of NeurologyHuifang Xie论文数: 0 引用数: 0 h-index: 0机构: Zhujiang Hospital,Department of Neurology
- [7] Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IEBMC NEUROLOGY, 2018, 18Zheng, Wenxia论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaYan, Zhenxing论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaHe, Rongni论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaHuang, Yaowei论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Nanfang Hosp, Dept Neurol, 1838 Guangzhou Ave North, Guangzhou 510515, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaLin, Aiqun论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaHuang, Wei论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaSu, Yuying论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaLi, Shaoyuan论文数: 0 引用数: 0 h-index: 0机构: AmCare Genom Lab, Guangzhou 510320, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaZhang, Victor Wei论文数: 0 引用数: 0 h-index: 0机构: AmCare Genom Lab, Guangzhou 510320, Guangdong, Peoples R China Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R ChinaXie, Huifang论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China Southern Med Univ, Zhujiang Hosp, Dept Neurol, 253 Ind Ave Middle, Guangzhou 510282, Guangdong, Peoples R China
- [8] Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossNature Genetics, 2011, 43 : 595 - 600Christopher J Klein论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesMaria-Victoria Botuyan论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesYanhong Wu论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesChristopher J Ward论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesGarth A Nicholson论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesSimon Hammans论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesKaori Hojo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesHiromitch Yamanishi论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesAdam R Karpf论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesDouglas C Wallace论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesMariella Simon论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesCecilie Lander论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesLisa A Boardman论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesJulie M Cunningham论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesGlenn E Smith论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesWilliam J Litchy论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesBenjamin Boes论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesElizabeth J Atkinson论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesSumit Middha论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesP James B Dyck论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesJoseph E Parisi论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesGeorges Mer论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesDavid I Smith论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve DiseasesPeter J Dyck论文数: 0 引用数: 0 h-index: 0机构: Mayo Clinic,Department of Neurology, Division of Peripheral Nerve Diseases
- [9] Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossNATURE GENETICS, 2011, 43 (06) : 595 - U140Klein, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USABotuyan, Maria-Victoria论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAWu, Yanhong论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAWard, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USANicholson, Garth A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Mol Med Lab, Sydney, NSW 2006, Australia Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAHammans, Simon论文数: 0 引用数: 0 h-index: 0机构: Southampton Univ Hosp Natl Hlth Serv NHS Trust, Dept Neurol, Southampton, Hants, England Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAHojo, Kaori论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAYamanishi, Hiromitch论文数: 0 引用数: 0 h-index: 0机构: Harima Sanat, Div Psychiat, Hyogo, Japan Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAKarpf, Adam R.论文数: 0 引用数: 0 h-index: 0机构: Roswell Pk Canc Inst, Dept Pharmacol & Therapeut, Buffalo, NY 14263 USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAWallace, Douglas C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Ctr Mol & Mitochondrial Med & Genet, Irvine, CA USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USASimon, Mariella论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Ctr Mol & Mitochondrial Med & Genet, Irvine, CA USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USALander, Cecilie论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Royal Brisbane Hosp, Herston, Qld, Australia Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USABoardman, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Gastroenterol, Rochester, MN USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USACunningham, Julie M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USASmith, Glenn E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Psychol, Rochester, MN USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USALitchy, William J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USABoes, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Roche Appl Sci Genom Sequencing, Indianapolis, IN USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAAtkinson, Elizabeth J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAMiddha, Sumit论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USADyck, P. James B.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAParisi, Joseph E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Neuropathol, Rochester, MN USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USAMer, Georges论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USASmith, David I.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USADyck, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Div Peripheral Nerve Dis, Rochester, MN 55905 USA
- [10] A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiencyJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 150 - 153Fox, Robin论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, England Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, EnglandEaling, John论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, England Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, EnglandMurphy, Helen论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, EnglandGow, David P.论文数: 0 引用数: 0 h-index: 0机构: Dunedin Publ Hosp, Dept Neurol, Dunedin, New Zealand Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, EnglandGosal, David论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, England Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, England