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hereditary spastic paraplegia complicated phenotype相关文献:
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
PMID:
SPG76: An extremely rare hereditary spastic paraplegia with a new expanding complicated phenotype.
PMID:
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.
PMID:
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, Schüle R, …
Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041.
PMID:33970200
Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.
Sahin I, Saat H.
Acta Neurol Belg. 2022 Dec;122(6):1529-1535. doi: 10.1007/s13760-021-01779-y. Epub 2021 Aug 22.
PMID:34420199
Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family.
Yan D, Chen S, Cai F, Shu J, Zhi X, Zheng J, Zhang C, Li D, Cai C.
Front Pediatr. 2022 Feb 11;9:816265. doi: 10.3389/fped.2021.816265. eCollection 2021.
PMID:35223715
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Freua F, Almeida MEC, Nóbrega PR, Paiva ARB, Della-Ripa B, Cunha P, Macedo-Souza LI, Bueno C, Lynch DS, Houlden H, Lucato LT, Kok F.
Cold Spring Harb Mol Case Stud. 2022 Sep 30;8(6):a006232. doi: 10.1101/mcs.a006232. Online ahead of print.
PMID:36180229
Spastic Paraplegia 3A.
Hedera P.
2010 Sep 21 [updated 2020 Jun 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20862796
Hereditary spastic paraplegia.
Roşulescu E, Stănoiu C, Buteică E, Stănoiu B, Burada F, Zăvăleanu M.
Rom J Morphol Embryol. 2009;50(2):299-303.
PMID:19434327
New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
Tian W, Zheng H, Zhu Z, Zhang C, Luan X, Cao L.
Ann Clin Transl Neurol. 2022 Aug;9(8):1108-1115. doi: 10.1002/acn3.51605. Epub 2022 Jun 9.
PMID:35684947
Spastic ataxias.
Bereznyakova O, Dupré N.
Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3.
PMID:29891058
L1 Syndrome.
Stumpel C, Vos YJ.
2004 Apr 28 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301657
ALS2-Related Disorder.
Orrell RW.
2005 Oct 21 [updated 2021 May 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301421
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