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- [11] A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literaturePARKINSONISM & RELATED DISORDERS, 2024, 118Pinheiro, Rita Goncalo论文数: 0 引用数: 0 h-index: 0机构: Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, Portugal Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, IC19, P-2720276 Amadora, Portugal Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, PortugalRato, Miguel Leal论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurociencias & Saude Mental, Serv Neurol, Lisbon, Portugal Univ Lisbon, Inst Farmacol & Neurociencias, Fac Med, Lisbon, Portugal Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, PortugalSilva, Claudia Santos论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurociencias & Saude Mental, Serv Neurol, Lisbon, Portugal Univ Lisbon, Inst Fisiol, Fac Med, Lisbon, Portugal Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, PortugalSoares, Marta P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Pediat, Serv Genet Med, Lisbon, Portugal Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, PortugalCarvalho, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurociencias & Saude Mental, Serv Neurol, Lisbon, Portugal Univ Lisbon, Fac Med, Ctr Estudos Egas Moniz, Lisbon, Portugal Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, PortugalGuedes, Leonor Correia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurociencias & Saude Mental, Serv Neurol, Lisbon, Portugal Univ Lisbon, Fac Med, Ctr Estudos Egas Moniz, Lisbon, Portugal Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, Portugal
- [12] CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5AACTA NEUROLOGICA SCANDINAVICA, 2014, 129 (05): : 330 - 334Roos, P.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, Denmark Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, DenmarkSvenstrup, K.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, Denmark Univ Copenhagen, Panum Inst, Dept Cellular & Mol Med, Sect Neurogenet, DK-2200 Copenhagen, Denmark Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, DenmarkDanielsen, E. R.论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Copenhagen Univ Hosp, Dept Radiol, DK-2100 Copenhagen, Denmark Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, DenmarkThomsen, C.论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Copenhagen Univ Hosp, Dept Radiol, DK-2100 Copenhagen, Denmark Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, DenmarkNielsen, J. E.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, Denmark Univ Copenhagen, Panum Inst, Dept Cellular & Mol Med, Sect Neurogenet, DK-2200 Copenhagen, Denmark Copenhagen Univ Hosp, Rigshosp, Memory Disorders Res Grp, Dept Neurol,Neurogenet Clin, DK-2100 Copenhagen, Denmark
- [13] Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47EMBO MOLECULAR MEDICINE, 2024, 16 (11) : 2882 - 2917Wiseman, Jessica P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Neurosci Inst, Western Bank, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandScarrott, Joseph M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Gene Therapy Innovat & Mfg Ctr GTIMC, Div Neurosci, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandAlves-Cruzeiro, Joao论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandSaffari, Afshin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, Boston, MA USA Heidelberg Univ Hosp, Div Child Neurol & Inherited Metab Dis, Heidelberg, Germany Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandBoger, Cedric论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, Boston, MA USA Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England论文数: 引用数: h-index:机构:Dawes, Emily论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandDavies, Alexandra K.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Manchester Acad Hlth Sci Ctr, Sch Biol Sci, Manchester, England Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res, Cambridge, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandMarchi, Paolo M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandGraves, Emily论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandFernandes, Fiona论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandYang, Zih-Liang论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Neurosci Inst, Western Bank, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England论文数: 引用数: h-index:机构:Hirst, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res, Cambridge, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandWebster, Christopher P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Neurosci Inst, Western Bank, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandHighley, J. Robin论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Neurosci Inst, Western Bank, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandHackett, Neil论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Dept Infect Immun & Cardiovasc Dis, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandAngyal, Adrienn论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Dept Infect Immun & Cardiovasc Dis, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England论文数: 引用数: h-index:机构:Higginbottom, Adrian论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Neurosci Inst, Western Bank, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandShaw, Pamela J.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Neurosci Inst, Western Bank, Sheffield, England Sheffield Teaching Hosp NHS Fdn Trust, Sheffield NIHR Biomed Res Ctr, Glossop Rd, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandFerraiuolo, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, EnglandEbrahimi-Fakhari, Darius论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, Boston, MA USA Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Div Neurosci, Sheffield, England论文数: 引用数: h-index:机构:
- [14] Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalizationBRAIN COMMUNICATIONS, 2022, 5 (01)Scarrott, Joseph M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, Dept Chem & Biol Engn, Mappin St, Sheffield, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandAlves-Cruzeiro, Joao论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandMarchi, Paolo M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandWebster, Christopher P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandYang, Zih-Liang论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandKaryka, Evangelia论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandMarroccella, Raffaele论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Somaserve, Babraham Res Campus, Cambridge, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandColdicott, Ian论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandThomas, Hannah论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, EnglandAzzouz, Mimoun论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England Univ Sheffield, URI Neurosci Inst, Western Bank, Sheffield S10 2TN, England Univ Sheffield, Dept Neurosci, 385 Glossop Rd, Sheffield S10 2HQ, England Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, England
- [15] AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variantJournal of Applied Genetics, 2020, 61 : 213 - 218论文数: 引用数: h-index:机构:Hanna Mierzewska论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsRobert Śmigiel论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsJoanna Kosińska论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsAgnieszka Koppolu论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsAnna Biernacka论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsPiotr Stawiński论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsAgnieszka Pollak论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsMałgorzata Rydzanicz论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsRafał Płoski论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical Genetics
- [16] AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variantJOURNAL OF APPLIED GENETICS, 2020, 61 (02) : 213 - 218Szczaluba, Krzysztof论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandMierzewska, Hanna论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Child & Adolescent Neurol, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandSmigiel, Robert论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Dept Paediat, Div Paediat Propaedeut & Rare Disorders, Wroclaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandKosinska, Joanna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandKoppolu, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Postgrad Sch Mol Med, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandBiernacka, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Postgrad Sch Mol Med, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandStawinski, Piotr论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Inst Physiol & Pathol Hearing, Dept Genet, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandPollak, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandRydzanicz, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland
- [17] Novel compound heterozygous variants in KIF1A non-motor domain of recessive hereditary spastic paraplegia type 30: a case with 65-year disease historyNEUROLOGICAL SCIENCES, 2024, : 1933 - 1935Zheng, Xiaosheng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R ChinaLuo, Wei论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R China