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- [21] Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 geneANNALS OF HUMAN GENETICS, 2022, 86 (03) : 109 - 118Gomez-Gonzalez, Clara论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainPizarro-Sanchez, Cristina论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainRodriguez-Antolin, Carlos论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Canc Epigenet Lab, INGEMM, Madrid, Spain IdiPAZ, Biomarkers & Expt Therapeut Canc, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainPascual-Pascual, Ignacio论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Paediat Neurol, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainGarcia-Romero, Mar论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Paediat Neurol, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainRodriguez-Jimenez, Carmen论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Next Generat Sequencing, INGEMM, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, Spainde Sancho-Martin, Ruben论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, Spaindel Pozo-Mate, Angela论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Bioinformat, INGEMM, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainSolis-Lopez, Mario论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Bioinformat, INGEMM, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainCastro, Carmen Prior-de论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, SpainTorres, Rosa J.论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp Hlth Res Inst FIBHULP, IdiPAZ, Biochem Lab, Madrid, Spain ISCIII Spain, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain La Paz Univ Hosp, Dept Mol Genet, INGEMM, Madrid, Spain
- [22] Novel pathogenic variant of the SPAST gene (c.1413+4A>G) in a patient with hereditary spastic paraplegiaEUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 885 - 885Park, H. -M.论文数: 0 引用数: 0 h-index: 0机构: Gachon Univ Hosp, Neurol, Inchon, South Korea Gachon Univ Hosp, Neurol, Inchon, South KoreaYang, J.论文数: 0 引用数: 0 h-index: 0机构: Gachon Univ, Gil Med Ctr, Dept Neurol, Incheon, South Korea Gachon Univ Hosp, Neurol, Inchon, South Korea
- [23] 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
- [24] AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic rangeEUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (11)Salayev, Kamran论文数: 0 引用数: 0 h-index: 0机构: Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, Azerbaijan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanRocca, Clarissa论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London WC1N 3BG, England Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanKaiyrzhanov, Rauan论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London WC1N 3BG, England Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanGuliyeva, Ulviyya论文数: 0 引用数: 0 h-index: 0机构: MediClub Hosp, 45 Uzeyir Hajibeyli Str, AZ-1010 Baku, Azerbaijan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanGuliyeva, Sughra论文数: 0 引用数: 0 h-index: 0机构: MediClub Hosp, 45 Uzeyir Hajibeyli Str, AZ-1010 Baku, Azerbaijan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanMursalova, Aytan论文数: 0 引用数: 0 h-index: 0机构: Baku City Gerontol Ctr, Azadliq Ave, Baku, Azerbaijan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanRahman, Fatima论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth & Children Hosp, Dev & Behav Pediat Dept, Lahore 54000, Pakistan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanAnwar, Najwa论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth & Children Hosp, Dev & Behav Pediat Dept, Lahore 54000, Pakistan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanZafar, Faisal论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Paediat Neurol, Multan, Pakistan Inst Child Hlth, Multan, Pakistan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, Azerbaijan论文数: 引用数: h-index:机构:Rana, Nuzhat论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Paediat Neurol, Multan, Pakistan Inst Child Hlth, Multan, Pakistan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanMaqbool, Shazia论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth & Children Hosp, Dev & Behav Pediat Dept, Lahore 54000, Pakistan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London WC1N 3BG, England Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London WC1N 3BG, England Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, Azerbaijan
- [25] Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)neurogenetics, 2012, 13 : 73 - 76Peter Bauer论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsEsther Leshinsky-Silver论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsLubov Blumkin论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsNina Schlipf论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsChristopher Schröder论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsJulia Schicks论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsDorit Lev论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsOlaf Riess论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsTally Lerman-Sagie论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical GeneticsLudger Schöls论文数: 0 引用数: 0 h-index: 0机构: University of Tübingen,Department of Medical Genetics
- [26] Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)NEUROGENETICS, 2012, 13 (01) : 73 - 76Bauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Med Genet, Tubingen, Germany Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelLeshinsky-Silver, Esther论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, Israel Wolfson Med Ctr, Metab Neurogenet Clin, Holon, Israel Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelBlumkin, Lubov论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Metab Neurogenet Clin, Holon, Israel Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Pediat Neurol Unit, IL-69978 Tel Aviv, Israel Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelSchlipf, Nina论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Med Genet, Tubingen, Germany Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelSchroeder, Christopher论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Med Genet, Tubingen, Germany Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelSchicks, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol, Tubingen, Germany Univ Tubingen, German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelLev, Dorit论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, Israel Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Inst Med Genet, IL-69978 Tel Aviv, Israel Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelRiess, Olaf论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Med Genet, Tubingen, Germany Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelLerman-Sagie, Tally论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Metab Neurogenet Clin, Holon, Israel Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Pediat Neurol Unit, IL-69978 Tel Aviv, Israel Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, IsraelSchoels, Ludger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol, Tubingen, Germany Univ Tubingen, German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Tel Aviv Univ, Sackler Sch Med, Wolfson Med Ctr, Mol Genet Lab, IL-69978 Tel Aviv, Israel
- [27] 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, Denmark论文数: 引用数: h-index:机构:
- [28] 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:
- [29] Novel compound heterozygous variants in ALDH18A1 gene: expanding knowledge on autosomal recessive spastic paraplegia 9BEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1485 - 1485Cali, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, Italy IRCCS Giannina Gaslini, Genom & Clin Genet, Genoa, Italy Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, ItalyCapra, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, Genom & Clin Genet, Genoa, Italy Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, ItalyStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, ItalyVari, Maria Stella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, ItalyMadia, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, Med Genet Unit, Genoa, Italy Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, ItalyHenzen, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Italian Inst Technol IIT, Genom Facil, Genoa, Italy Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, ItalyFaravelli, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, Genom & Clin Genet, Genoa, Italy Univ Catania, Biomed & biotechnol Sci, Med Genet, Catania, Italy
- [30] AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variantJournal of Applied Genetics, 2020, 61 : 213 - 218Krzysztof Szczałuba论文数: 0 引用数: 0 h-index: 0机构: Medical University of Warsaw,Department of Medical GeneticsHanna 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