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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: suzuki y. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik… See abstract for full author list ➔ Wiessner M, et al. Among authors: suzuki y. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Hernández-Hernández O, Guiraud-Dogan C, Sicot G, Huguet A, Luilier S, Steidl E, Saenger S, Marciniak E, Obriot H, Chevarin C, Nicole A, Revillod L, Charizanis K, Lee KY, Suzuki Y, Kimura T, Matsuura T, Cisneros B, Swanson MS, Trovero F, Buisson B, Bizot JC, Hamon M, Humez S, Bassez G, Metzger F, Buée L, Munnich A, Sergeant N, Gourdon G, Gomes-Pereira M. Hernández-Hernández O, et al. Among authors: suzuki y. Brain. 2013 Mar;136(Pt 3):957-70. doi: 10.1093/brain/aws367. Epub 2013 Feb 11. Brain. 2013. PMID: 23404338 Free PMC article.
Antimicrobial Use Survey and Detection of ESBL-Escherichia coli in Commercial and Medium-/Small-Scale Poultry Farms in Selected Districts of Zambia.
Sinyawa T, Shawa M, Muuka GM, Goma F, Fandamu P, Chizimu JY, Khumalo CS, Mulavu M, Ngoma M, Chambaro HM, Kamboyi HK, Kajihara M, Sawa H, Suzuki Y, Higashi H, Mainda G, Munyeme M, Muma JB, Nyantakyi CO, Egyir B, Hang'ombe BM. Sinyawa T, et al. Among authors: suzuki y. Antibiotics (Basel). 2024 May 20;13(5):467. doi: 10.3390/antibiotics13050467. Antibiotics (Basel). 2024. PMID: 38786195 Free PMC article.
Simple prediction tools for disease progression in unvaccinated patients with mild/moderate COVID-19 aged under 65 years: Simplified DOATS and DOAT scores.
Shibata Y, Minemura H, Suzuki Y, Nikaido T, Tanino Y, Rikimaru M, Kawamata T, Togawa R, Sato Y, Saito J, Kanazawa K, Iseki K; Doctors in Fukushima and Yamagata against COVID-19. Shibata Y, et al. Among authors: suzuki y. Respir Investig. 2024 May 22;62(4):681-684. doi: 10.1016/j.resinv.2024.05.006. Online ahead of print. Respir Investig. 2024. PMID: 38781788
Single-nucleotide polymorphism array and fluorescence in situ hybridization analysis to decode the cytogenetic profile of atypical partial hydatidiform moles diagnosed by short tandem repeat polymorphism analysis.
Suzuki Y, Usui H, Katayama E, Sato A, Nakamura N, Nakada E, Omoto A, Okayama J, Sato M, Nagasawa A, Hirosawa A, Shozu M, Koga K. Suzuki Y, et al. Genes Chromosomes Cancer. 2024 Feb;63(2):e23220. doi: 10.1002/gcc.23220. Genes Chromosomes Cancer. 2024. PMID: 38780072
Metastatic Gastric Tumors: Clinical and Endoscopic Features.
Hirano K, Nomura K, Ochiai Y, Hayasaka J, Suzuki Y, Mitsunaga Y, Odagiri H, Masui A, Kikuchi D, Hoteya S. Hirano K, et al. Among authors: suzuki y. Cureus. 2024 Apr 21;16(4):e58678. doi: 10.7759/cureus.58678. eCollection 2024 Apr. Cureus. 2024. PMID: 38770512 Free PMC article.
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