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- [1] 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
- [2] Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout MiceNEUROSCIENCE, 2019, 397 : 94 - 106Bhuiyan, Robiul H.论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanOhmi, Yuhsuke论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan Nagoya Univ, Grad Sch Med, Dept Biochem 2, Nagoya, Aichi 4660065, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanOhkawa, Yuki论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanZhang, Pu论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan Nagoya Univ, Grad Sch Med, Dept Biochem 2, Nagoya, Aichi 4660065, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanTakano, Maiko论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan Nagoya Univ, Grad Sch Med, Dept Biochem 2, Nagoya, Aichi 4660065, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanHashimoto, Noboru论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Grad Sch Med, Dept Biochem 2, Nagoya, Aichi 4660065, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanOkajima, Tetsuya论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Grad Sch Med, Dept Biochem 2, Nagoya, Aichi 4660065, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanFurukawa, Keiko论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, JapanFurukawa, Koichi论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan Nagoya Univ, Grad Sch Med, Dept Biochem 2, Nagoya, Aichi 4660065, Japan Chubu Univ, Coll Life & Hlth Sci, Dept Biomed Sci, 1200 Matsumoto, Kasugai, Aichi 4878501, Japan
- [3] Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegiaJOURNAL OF BIOCHEMISTRY, 2020, 168 (02) : 103 - 112Yesmin, Farhana论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan Nagoya Univ, Dept Biochem 2, Grad Sch Med, Nagoya, Aichi 4660065, Japan Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, JapanBhuiyan, Robiul H.论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan Univ Chittagong, Dept Biochem & Mol Biol, Chittagong 4331, Bangladesh Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, JapanOhmi, Yuhsuke论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, JapanOhkawa, Yuki论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, JapanTajima, Orie论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, JapanOkajima, Tetsuya论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Biochem 2, Grad Sch Med, Nagoya, Aichi 4660065, Japan Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, JapanFurukawa, Keiko论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, JapanFurukawa, Koichi论文数: 0 引用数: 0 h-index: 0机构: Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan Nagoya Univ, Dept Biochem 2, Grad Sch Med, Nagoya, Aichi 4660065, Japan Chubu Univ, Dept Biomed Sci, Coll Life & Hlth Sci, 1200 Matsumoto, Kasugai, Nagano 4878501, Japan
- [4] 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
- [5] Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population Clinical investigationCLINICAL BIOCHEMISTRY, 2009, 42 (09) : 819 - 822Boraska, Vesna论文数: 0 引用数: 0 h-index: 0机构: Univ Split, Dept Med Biol, Sch Med, Split 21000, Croatia Univ Split, Croatian Ctr Global Hlth, Sch Med, Split 21000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaTorlak, Vesela论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Split, Dept Nucl Med, Split 21000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaSkrabic, Veselin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Split, Dept Pediat, Split 21000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaKacic, Zrinka论文数: 0 引用数: 0 h-index: 0机构: Gen Hosp Dubrovnik, Dept Pediat, Dubrovnik 20000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaJaksic, Jasminka论文数: 0 引用数: 0 h-index: 0机构: Gen Hosp Sibenik, Dept Pediat, Shibenik 22000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaStipancic, Gordana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Sestre Milosrdnice Zagreb, Dept Pediat, Zagreb 10000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaUroic, Anita Spehar论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Rebro, Dept Pediat, Zagreb 10000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaMarkotic, Anita论文数: 0 引用数: 0 h-index: 0机构: Univ Split, Dept Med Chem & Biochem, Sch Med, Split 21000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, CroatiaZemunik, Tatijana论文数: 0 引用数: 0 h-index: 0机构: Univ Split, Dept Med Biol, Sch Med, Split 21000, Croatia Univ Split, Croatian Ctr Global Hlth, Sch Med, Split 21000, Croatia Univ Split, Dept Med Biol, Sch Med, Split 21000, Croatia
- [6] Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic ParaplegiaMOVEMENT DISORDERS CLINICAL PRACTICE, 2025,论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Carbonelli, Michele论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, ItalySantucci, Margherita论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, ItalyIsidori, Federica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Azienda Osped Univ Bologna, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [7] A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegiaJOURNAL OF NEUROLOGY, 2007, 254 (07) : 897 - 900Hansen, Jakob论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, DenmarkSvenstrup, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, DenmarkAng, Debbie论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, DenmarkNielsen, Marit N.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, DenmarkChristensen, Jane H.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, DenmarkGregersen, Niels论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, Denmark论文数: 引用数: h-index:机构:Georgopoulos, Costa论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, DenmarkBross, Peter论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Skejby Sygehus, Fac Hlth Sci, Res Unit Mol Med, DK-8200 Aarhus N, Denmark
- [8] A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegiaJournal of Neurology, 2007, 254 : 897 - 900J. Hansen论文数: 0 引用数: 0 h-index: 0机构: Faculty of Health Sciences Aarhus University Hospital ,Research Unit for Molecular MedicineK. Svenstrup论文数: 0 引用数: 0 h-index: 0机构: Faculty of Health Sciences Aarhus University Hospital ,Research Unit for Molecular MedicineD. Ang论文数: 0 引用数: 0 h-index: 0机构: Faculty of Health Sciences Aarhus University Hospital ,Research Unit for Molecular Medicine论文数: 引用数: h-index:机构:J. H. Christensen论文数: 0 引用数: 0 h-index: 0机构: Faculty of Health Sciences Aarhus University Hospital ,Research Unit for Molecular MedicineN. Gregersen论文数: 0 引用数: 0 h-index: 0机构: Faculty of Health Sciences Aarhus University Hospital ,Research Unit for Molecular MedicineJ. E. Nielsen论文数: 0 引用数: 0 h-index: 0机构: Faculty of Health Sciences Aarhus University Hospital ,Research Unit for Molecular Medicine论文数: 引用数: h-index:机构:P. Bross论文数: 0 引用数: 0 h-index: 0机构: Faculty of Health Sciences Aarhus University Hospital ,Research Unit for Molecular Medicine
- [9] Novel Aspects of Hereditary Spastic Paraplegia: A Clinicopathologic and Biochemical Study of a Patient With a Heterozygous GCH1 VariantNEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2025, 51 (01)Hongo, Shoko论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Neurol, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanIkeda, Tetsuhiko论文数: 0 引用数: 0 h-index: 0机构: NHO Niigata Natl Hosp, Dept Neurol, Kashiwazaki, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanTada, Mari论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanAida, Rina论文数: 0 引用数: 0 h-index: 0机构: Inst Sci Tokyo, Sch Life Sci & Technol, Yokohama, Kanagawa, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanOzawa, Tetsuo论文数: 0 引用数: 0 h-index: 0机构: NHO Niigata Natl Hosp, Dept Internal Med, Kashiwazaki, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanHara, Norikazu论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Mol Genet, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanMiyashita, Akinori论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Mol Genet, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanNakajima, Takashi论文数: 0 引用数: 0 h-index: 0机构: NHO Niigata Natl Hosp, Dept Neurol, Kashiwazaki, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanOnodera, Osamu论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Neurol, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanIkeuchi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Mol Genet, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanIchinose, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Inst Sci Tokyo, Sch Life Sci & Technol, Yokohama, Kanagawa, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, JapanKakita, Akiyoshi论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Pathol, Chuo, Niigata, Japan
- [10] 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