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proximal tubulopathydiabetes mellitus-cerebellar ataxia相关文献:
Stiff-person syndrome.
Bose S, Jacob S.
Pract Neurol. 2025 Jan 16;25(1):6-17. doi: 10.1136/pn-2023-003974.
PMID:39222980
Marinesco-Sjögren Syndrome.
Anttonen AK.
2006 Nov 29 [updated 2024 Oct 3]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301371
Oncometabolites suppress DNA repair by disrupting local chromatin signalling.
Sulkowski PL, Oeck S, Dow J, Economos NG, Mirfakhraie L, Liu Y, Noronha K, Bao X, Li J, Shuch BM, King MC, Bindra RS, Glazer PM.
Nature. 2020 Jun;582(7813):586-591. doi: 10.1038/s41586-020-2363-0. Epub 2020 Jun 3.
PMID:32494005
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D.
Hum Mol Genet. 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69.
PMID:9887333
Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease.
Funakawa K, Kurihara M, Takahashi K, Higashihara M, Hara M, Mitsutake A, Ishiura H, Tokumaru AM, Sonoo M, Murayama S, Saito Y, Iwata A.
J Neurol Sci. 2024 Mar 15;458:122915. doi: 10.1016/j.jns.2024.122915. Epub 2024 Feb 2.
PMID:38326182
Pathophysiology of cerebellar ataxia.
Diener HC, Dichgans J.
Mov Disord. 1992;7(2):95-109. doi: 10.1002/mds.870070202.
PMID:1584245
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D.
Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391.
PMID:36315648
Single Large-Scale Mitochondrial DNA Deletion Syndromes.
Goldstein A, Falk MJ.
2003 Dec 17 [updated 2023 Sep 28]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301382
Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J.
J Clin Neuromuscul Dis. 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422.
PMID:36809201
Lateral thalamic infarcts.
Caplan LR, DeWitt LD, Pessin MS, Gorelick PB, Adelman LS.
Arch Neurol. 1988 Sep;45(9):959-64. doi: 10.1001/archneur.1988.00520330037008.
PMID:3046580
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