共 50 条
- [21] SYNE1 Mutations in Autosomal Recessive Cerebellar AtaxiaJAMA NEUROLOGY, 2013, 70 (10) : 1296 - 1301Noreau, Anne论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada CRCHUM, Montreal, PQ, CanadaBourassa, Cynthia V.论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada CRCHUM, Montreal, PQ, CanadaSzuto, Anna论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada CRCHUM, Montreal, PQ, CanadaLevert, Annie论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada CRCHUM, Montreal, PQ, CanadaDobrzeniecka, Sylvia论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada CRCHUM, Montreal, PQ, CanadaGauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada Ctr Hop Univ St Justine, Res Ctr, Montreal, PQ, Canada CRCHUM, Montreal, PQ, CanadaForlani, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U975, Ctr Rech,Inst Cerveau & Moelle Epiniere, Paris, France CRCHUM, Montreal, PQ, CanadaDurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U975, Ctr Rech,Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France CRCHUM, Montreal, PQ, CanadaAnheim, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U975, Ctr Rech,Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Hop Civil, Dept Neurol, Strasbourg, France CRCHUM, Montreal, PQ, CanadaStevanin, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U975, Ctr Rech,Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Hop La Pitie Salpetriere, Ecole Prat Hautes Etud, Lab Neurogenet, Paris, France CRCHUM, Montreal, PQ, CanadaBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U975, Ctr Rech,Inst Cerveau & Moelle Epiniere, Paris, France CRCHUM, Montreal, PQ, CanadaBouchard, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Laval, Ctr Hop Univ Quebec, Dept Neurol Sci, Quebec City, PQ, Canada Univ Laval, Ctr Hop Univ Quebec, Fac Med, Quebec City, PQ, Canada CRCHUM, Montreal, PQ, CanadaDion, Patrick A.论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada Univ Montreal, Dept Pathol & Cellular Biol, Montreal, PQ, Canada CRCHUM, Montreal, PQ, CanadaDupre, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Laval, Ctr Hop Univ Quebec, Dept Neurol Sci, Quebec City, PQ, Canada Univ Laval, Ctr Hop Univ Quebec, Fac Med, Quebec City, PQ, Canada CRCHUM, Montreal, PQ, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: CRCHUM, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada CRCHUM, Montreal, PQ, Canada
- [22] Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaNEUROLOGY-GENETICS, 2021, 7 (02) : e558Smits, Daphne J.论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, NetherlandsSchot, Rachel论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, NetherlandsWilke, Martina论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlandsvan Slegtenhorst, Marjon论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlandsde Wit, Marie Claire Y.论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Univ Med Ctr Rotterdam, Sophia Childrens Hosp, Dept Child Neurol, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr, ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, NetherlandsDremmen, Marjolein H. G.论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Univ Med Ctr Rotterdam, Sophia Childrens Hosp, Dept Radiol, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr, ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, NetherlandsDobyns, William B.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Neurol, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Minnesota, Dept Human Genet, Minneapolis, MN USA ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, NetherlandsBarkovich, A. James论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, NetherlandsMancini, Grazia M. S.论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr, ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands ErasmusMC, Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands
- [23] SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairmentCLINICS AND PRACTICE, 2018, 8 (03) : 91 - 93Swan, Lauren论文数: 0 引用数: 0 h-index: 0机构: Wesley Hosp, Dept Paediat, 40 Chasley St, Brisbane, Qld 4068, Australia Wesley Hosp, Dept Paediat, 40 Chasley St, Brisbane, Qld 4068, AustraliaCardinal, John论文数: 0 引用数: 0 h-index: 0机构: Adv Med Diagnost, Brisbane, Qld, Australia Wesley Hosp, Dept Paediat, 40 Chasley St, Brisbane, Qld 4068, Australia论文数: 引用数: h-index:机构:
- [24] Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: A new syndrome?CLINICAL GENETICS, 1997, 51 (05) : 326 - 330Farah, S论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITSabry, MA论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITKhuraibet, A论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITKhaffagi, S论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITRudwan, M论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITHassan, M论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITHaseeb, N论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITAbulhassan, S论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITAbdelRasool, MA论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITElgamal, S论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITQasrawi, B论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITAlBusairi, W论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAITFarag, TI论文数: 0 引用数: 0 h-index: 0机构: IBN SINA HOSP,DEPT NEUROL,KUWAIT,KUWAIT
- [25] Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisHUMAN MOLECULAR GENETICS, 2015, 24 (13) : 3732 - 3741Pagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandHoward, Malcolm F.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandWisniewski, Eva论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver NICHD, Sect Mol Signal Transduct, Program Dev Neurosci, NIH, Bethesda, MD 20892 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandPopitsch, Niko论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandKnight, Samantha J. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandKeays, David A.论文数: 0 引用数: 0 h-index: 0机构: Inst Mol Pathol, A-1030 Vienna, Austria Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandQuaghebeur, Gerardine论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Hosp NHS Trust, Dept Neuroradiol, Oxford OX3 9DU, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandCox, Helen论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp NHS Fdn Trust, West Midlands Reg Clin Genet Serv, Clin Genet Unit, Birmingham B15 2TG, W Midlands, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandCox, Phillip论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp NHS Fdn Trust, Dept Histopathol, Birmingham B15 2TG, W Midlands, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandBalla, Tamas论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver NICHD, Sect Mol Signal Transduct, Program Dev Neurosci, NIH, Bethesda, MD 20892 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, EnglandTaylor, Jenny C.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Biomed Res Ctr, Natl Inst Hlth Res, Oxford OX3 7BN, England论文数: 引用数: h-index:机构:
- [26] SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African FamiliesNEURODEGENERATIVE DISEASES, 2017, 17 (4-5) : 208 - 212Hammer, Monia B.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USADing, Jinhui论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:Eleuch-Fayache, Ghada论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USACharles, Perrine论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere Univ Hosp, AP HP, Dept Genet, Paris, France NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:Gibbs, J. Raphael论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAArepalli, Sampath K.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAChong, Sean B.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAHernandez, Dena G.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAMajounie, Elisa论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAClipman, Steven论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USABouhlal, Yosr论文数: 0 引用数: 0 h-index: 0机构: UCSF, Inst Human Genet, San Francisco, CA USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USANehdi, Houda论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USABrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere Univ Hosp, AP HP, Dept Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, ICM Inst Cerveau & Moelle Epiniere, CNRS,UMR 7225,INSERM,U1127,UMR S 1127, Paris, France NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAHentati, Faycal论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAStevanin, Giovanni论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, ICM Inst Cerveau & Moelle Epiniere, CNRS,UMR 7225,INSERM,U1127,UMR S 1127, Paris, France PSL Res Univ, EPHE, Paris, France NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USAAmouri, Rim论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USADurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere Univ Hosp, AP HP, Dept Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, ICM Inst Cerveau & Moelle Epiniere, CNRS,UMR 7225,INSERM,U1127,UMR S 1127, Paris, France NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USASingleton, Andrew B.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA
- [27] Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasiaHORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 53 - 53Gregory, Louise C.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandWhittaker, Danielle E.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Guys Hosp Tower Wing, Ctr Craniofacial & Regenerat Biol, London, England Royal Vet Coll, Dept Comparat Biomed Sci, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandOleari, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pharmacol & Biomol Sci, Milan, Italy UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandLe Quesne-Stabej, Polona论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, England Univ Auckland, Dept Mol Med & Pathol, Auckland, New Zealand UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandWilliams, Hywel J.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandTorpiano, John G.论文数: 0 引用数: 0 h-index: 0机构: Mater Dei Hosp, Dept Paediat, Msida, Malta UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandFormosa, Nancy论文数: 0 引用数: 0 h-index: 0机构: Mater Dei Hosp, Dept Paediat, Msida, Malta UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandCachia, Mario J.论文数: 0 引用数: 0 h-index: 0机构: Mater Dei Hosp, Adult Endocrinol Serv, Msida, Malta UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandField, Daniel论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Ctr Craniofacial & Regenerat Biol, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandLettieri, Antonella论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandOcaka, Louise论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandDe Martini, Lisa Benedetta论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pharmacol & Biomol Sci, Milan, Italy UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandRajabali, Sakina论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Guys Hosp Tower Wing, Ctr Craniofacial & Regenerat Biol, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandRiegman, Kimberley L.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Guys Hosp Tower Wing, Ctr Craniofacial & Regenerat Biol, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandPaganoni, Alyssa J. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pharmacol & Biomol Sci, Milan, Italy UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandChaya, Taro论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Inst Prot Res, Lab Mol & Dev Biol, Osaka, Japan UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandRobinson, Iain C. A. F.论文数: 0 引用数: 0 h-index: 0机构: Francis Crick Inst, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandFurukawa, Takahisa论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Inst Prot Res, Lab Mol & Dev Biol, Osaka, Japan UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandCariboni, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pharmacol & Biomol Sci, Milan, Italy UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandBasson, M. Albert论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Guys Hosp Tower Wing, Ctr Craniofacial & Regenerat Biol, London, England Kings Coll London, MRC Ctr Neurodevelopmental Disorders, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, EnglandDattani, Mehul T.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, London, England
- [28] Autosomal recessive juvenile ALS associated with spatacsin mutationsMOVEMENT DISORDERS, 2008, 23 (01) : S48 - S48Orlacchio, A.论文数: 0 引用数: 0 h-index: 0Borreca, A.论文数: 0 引用数: 0 h-index: 0Patrono, C.论文数: 0 引用数: 0 h-index: 0Babalini, C.论文数: 0 引用数: 0 h-index: 0Mercuri, N. B.论文数: 0 引用数: 0 h-index: 0Bernardi, G.论文数: 0 引用数: 0 h-index: 0Kawarai, T.论文数: 0 引用数: 0 h-index: 0
- [29] Lethal autosomal recessive nephrotic syndrome, microcephaly, cerebellar hypoplasia: possible Galloway Mowat syndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 374 - 374Hamed, R论文数: 0 引用数: 0 h-index: 0机构: Univ Jordan, Dept Pediat, Amman, JordanSrivastra, T论文数: 0 引用数: 0 h-index: 0机构: Univ Jordan, Dept Pediat, Amman, JordanGarola, RE论文数: 0 引用数: 0 h-index: 0机构: Univ Jordan, Dept Pediat, Amman, JordanDasouki, MJ论文数: 0 引用数: 0 h-index: 0机构: Univ Jordan, Dept Pediat, Amman, Jordan
- [30] AMACR MUTATIONS CAUSE LATE-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIANEUROLOGY, 2011, 76 (20) : 1768 - 1770Dick, David论文数: 0 引用数: 0 h-index: 0机构: Norfolk & Norwich Univ Hosp, Dept Neurol, Norwich, Norfolk, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChinnery, Patrick F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England