Artículos por temáticas

Long-Term Survivor with Paraneoplastic Cerebellar Ataxia and Small-Cell Lung Cancer

Tsoukalas K, Ntanasis-Stathopoulos I, Andrikopoulou A, Tzartos JS, Dimopoulos MA, Gavriatopoulou M.

J Clin Med. 2025 Jan 9;14(2):364. doi: 10.3390/jcm14020364.

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review

Magistrati M, Zupin L, Lamantea E, Baruffini E, Ghezzi D, Legati A, Celsi F, Murru FM, Capaci V, Pinamonti M, Bussani R, Carrozzi M, Dallabona C, Zeviani M, Bonati MT.

Int J Mol Sci. 2025 Jan 20;26(2):846. doi: 10.3390/ijms26020846.

Management of Wernicke's encephalopathy in a pregnant woman at 27 weeks gestation complicated by pre-eclampsia: A case report

Bensaid A, Boukroute M, Bekkaoui S, Berrichi H, Elrhalete A, Mimouni H, Oujidi Y, Bkiyar H, Housni B, Mimouni A.

Radiol Case Rep. 2025 Jan 3;20(3):1658-1661. doi: 10.1016/j.radcr.2024.12.018. eCollection 2025 Mar.

Opsoclonus-myoclonus syndrome in the course of teratoma: a case report

Szczupak M, Kobak J, Wiśniewska A, Kosydar-Bochenek J, Jamro A, Krupa-Nurcek S.

Front Med (Lausanne). 2025 Jan 9;11:1519408. doi: 10.3389/fmed.2024.1519408. eCollection 2024.

Arv1; a "Mover and Shaker" of Subcellular Lipids

Corbalan JJ, Frietze KK, Nickels J, Sturley SL.

Contact (Thousand Oaks). 2025 Jan 17;8:25152564251314601. doi: 10.1177/25152564251314601. eCollection 2025 Jan-Dec.

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing

Wells PA, Basu AP, Yates LM.

BMJ Case Rep. 2025 Jan 21;18(1):e263723. doi: 10.1136/bcr-2024-263723.

Anti-GluK2 antibody-positive autoimmune encephalitis concurrent with multiple myeloma: a case report

Cheng Z, Song Y, Zhao S, Sui X, Xie L, Zhao H, Pan X, Cui L, Huang X, Ma S.

BMC Neurol. 2025 Jan 20;25(1):27. doi: 10.1186/s12883-025-04037-3.

Generation and Characterization of a Knockout Mouse of an Enhancer of EBF3

Hurtado EC, Wotton JM, Gulka A, Burke C, Ng JK, Bah I, Manuel J, Heins H, Murray SA, Gorkin DU, White JK, Peterson KA, Turner TN.

bioRxiv [Preprint]. 2025 Jan 10:2025.01.09.631762. doi: 10.1101/2025.01.09.631762.

Wernicke's encephalopathy presenting with confusion and hearing loss

Carson L, Veremu M, Jesuthasan A, Ham T.

BMJ Case Rep. 2025 Jan 19;18(1):e263527. doi: 10.1136/bcr-2024-263527.

Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy

Kılıç M, Yıldız H, Konuskan B.

Acta Neurol Belg. 2025 Jan 18. doi: 10.1007/s13760-025-02724-z. Online ahead of print.

Therapeutic Intervention for Trunk Control Impairments in Central Nervous System Disorders: A Comprehensive Review of Methods and Efficacy

Yamashita H, Yamaoka T, Shimomura R, Ichimura S, Murata Y, Itoh A, Mima T, Koganemaru S.

Prog Rehabil Med. 2025 Jan 16;10:20250002. doi: 10.2490/prm.20250002. eCollection 2025.

Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B

Wong TH, Manuputty J, van Seeters T, Kamsteeg EJ, van de Warrenburg B.

Cerebellum. 2025 Jan 16;24(2):32. doi: 10.1007/s12311-025-01786-2.

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia

Sabbagh Q, Poblete NH, Angelini C, Hersent C, Benkirane M, Pointaux M, Larrieu L, Castrioto A, Deberge L, Fluchère F, Ramond F, Lesca G, Koenig M, Goizet C.

J Neurol. 2025 Jan 17;272(2):154. doi: 10.1007/s00415-025-12889-5.

Beneficial response to 4-aminopyridine in a case of autosomal recessive spinocerebellar ataxia 23 (SCAR23)

Santens P, Bruggeman A.

Neurol Sci. 2025 Jan 17. doi: 10.1007/s10072-025-08003-2. Online ahead of print.

Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions

Pellerin D, Iruzubieta P, Xu IRL, Danzi MC, Cortese A, Synofzik M, Houlden H, Zuchner S, Brais B.

Curr Neurol Neurosci Rep. 2025 Jan 16;25(1):16. doi: 10.1007/s11910-024-01400-8.