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- [1] Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26GENE, 2017, 626 : 258 - 263Dad, Rubina论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, Pakistan Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, PakistanMalik, Uzma论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, Pakistan Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, PakistanJaved, Aneela论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, Pakistan Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, PakistanMinassian, Berge A.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Div Neurol, Dept Paediat, Toronto, ON, Canada Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, PakistanHassan, Muhammad Jawad论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, Pakistan Natl Univ Sci & Technol, Atta Ur Ralunan Sch Appl Biosci ASAB, Islamabad 44000, Pakistan
- [2] Co-incident primary progressive multiple sclerosis and hereditary spastic paraplegia (SPG4) - a case reportMULTIPLE SCLEROSIS AND RELATED DISORDERS, 2020, 44Boucher, John J.论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Hosp Galway, Dept Neurol, Galway, Ireland Natl Univ Ireland Galway, Sch Med, Galway, Ireland Univ Coll Hosp Galway, Dept Neurol, Galway, IrelandCounihan, Timothy J.论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Hosp Galway, Dept Neurol, Galway, Ireland Natl Univ Ireland Galway, Sch Med, Galway, Ireland Univ Coll Hosp Galway, Dept Neurol, Galway, Ireland
- [3] Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general populationFRONTIERS IN NEUROSCIENCE, 2024, 18Inamori, Kei-ichiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanNakamura, Katsuya论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Neurol & Rheumatol, Matsumoto, Japan Shinshu Univ Hosp, Ctr Med Genet, Matsumoto, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanShishido, Fumi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Fac Med, Ctr Med Educ, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanHsu, Jia-Chen论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanNagafuku, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanNitta, Takahiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Japan Juntendo Univ, Fac Pharm, Lab Bioregulatory Clin Phamacol, Urayasu, Japan Juntendo Univ, Grad Sch Med, Inst Environm & Gender Specif Med, Urayasu, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanIkeda, Junji论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Neurol & Rheumatol, Matsumoto, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanYoshimura, Hidekane论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Matsumoto, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanKodaira, Minori论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Neurol & Rheumatol, Matsumoto, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Japan论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanUemura, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Fac Med, Div Med Biochem, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanOhno, Shiho论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Struct Glycobiol, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanManabe, Noriyoshi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Struct Glycobiol, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanYamaguchi, Yoshiki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Struct Glycobiol, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanTogayachi, Akira论文数: 0 引用数: 0 h-index: 0机构: Soka Univ, Glycan & Life Syst Integrat Ctr GaLSIC, Hachioji, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanAoki-Kinoshita, Kiyoko F.论文数: 0 引用数: 0 h-index: 0机构: Soka Univ, Glycan & Life Syst Integrat Ctr GaLSIC, Hachioji, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanNishihara, Shoko论文数: 0 引用数: 0 h-index: 0机构: Soka Univ, Glycan & Life Syst Integrat Ctr GaLSIC, Hachioji, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanFurukawa, Jun-ichi论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Inst Glycocore Res iGCORE, Nagoya, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanKaname, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanNakamura, Masahiko论文数: 0 引用数: 0 h-index: 0机构: Matsumoto City Hosp, Dept Neurosurg, Matsumoto, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanShimohata, Takayoshi论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, Gifu, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanTadaka, Shu论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanShirota, Matsuyuki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanKinoshita, Kengo论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanNakamura, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Fac Med, Ctr Med Educ, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanOhno, Isao论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Fac Med, Ctr Med Educ, Sendai, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanSekijima, Yoshiki论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Neurol & Rheumatol, Matsumoto, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, JapanInokuchi, Jin-ichi论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Forefront Res Ctr, Grad Sch Sci, Toyonaka, Japan Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Japan
- [4] 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
- [5] 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
- [6] Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesisAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (09) : 2590 - 2598Alecu, Julian Emanuel论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAOhmi, Yuhsuke论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, Kasugai, Aichi, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Med Technol, Kasugai, Aichi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USABhuiyan, Robiul H.论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, Kasugai, Aichi, Japan Univ Chittagong, Fac Biol Sci, Dept Biochem & Mol Biol, Chittagong, Bangladesh Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAInamori, Kei-ichiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USANitta, Takahiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USASaffari, Afshin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAJumo, Hellen论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAZiegler, Marvin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAde Gusmao, Claudio Melo论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USASharma, Nutan论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Movement Disorders Unit, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAOhno, Shiho论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Struct Glycobiol, Sendai, Miyagi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAManabe, Noriyoshi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Struct Glycobiol, Sendai, Miyagi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAYamaguchi, Yoshiki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Struct Glycobiol, Sendai, Miyagi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAKambe, Mariko论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, Kasugai, Aichi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAFurukawa, Keiko论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, Kasugai, Aichi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USASahin, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Rosamund Stone Zander Translat Neurosci Ctr, Boston, MA 02115 USA Boston Childrens Hosp, Intellectual & Dev Disabil Res Ctr, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAInokuchi, Jin-ichi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Med & Pharmaceut Univ, Inst Mol Biomembrane & Glycobiol, Div Glycopathol, Sendai, Miyagi, Japan Osaka Univ, Project Res Ctr Fundamental Sci, Core Med & Sci Collaborat Res & Educ MS CORE, Osaka, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAFurakawa, Koichi论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, Kasugai, Aichi, Japan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USAEbrahimi-Fakhari, Darius论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, Boston, MA 02115 USA Boston Childrens Hosp, Intellectual & Dev Disabil Res Ctr, Boston, MA USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA
- [7] Early Diagnosis of AP5Z1 /SPG48 Spastic Paraplegia: Case Report and Review of the LiteratureNEUROPEDIATRICS, 2024, 55 (05) : 341 - 346Papoff, Francesca M. A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalyAstrea, Guja论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalyMero, Serena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalyChicca, Laura论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalySatolli, Sara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalyPasquariello, Rosa论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalyBattini, Roberta论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalyTessa, Alessandra论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, ItalySantorelli, Filippo M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy IRCCS Stella Maris Fdn, Dept Dev Neurosci, Pisa, Italy
- [8] 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, AzerbaijanJan, Farida论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ Hosp, Dept Paediat & Child Hlth, Karachi, Pakistan Azerbaijan Med Univ, Dept Neurol, AZ-1010 Baku, AzerbaijanRana, 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
- [9] 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:
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