Artículos por temáticas

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.

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.

Eye Tracking during Passage Reading Supports Precise Oculomotor Assessment in Ataxias

Oubre B, Yang F, Luddy AC, Manohar R, Soja NN, Stephen CD, Schmahmann JD, Kulkarni D, White L, Patel S, Gupta AS.

medRxiv [Preprint]. 2025 Jan 17:2025.01.13.25320487. doi: 10.1101/2025.01.13.25320487.

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.

REV7 associates with ATRIP and inhibits ATR kinase activity

Biller M, Kabir S, Nipper S, Allen S, Kayali Y, Kuncik S, Sasanuma H, Zhou P, Vaziri C, Tomida J.

bioRxiv [Preprint]. 2025 Jan 18:2025.01.17.633588. doi: 10.1101/2025.01.17.633588.

Fucosidosis: A Review of a Rare Disease

Pekdemir B, Bechelany M, Karav S.

Int J Mol Sci. 2025 Jan 3;26(1):353. doi: 10.3390/ijms26010353.

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.

Post-infectious acute cerebellar ataxia in a young adult

Koren TJ, Kiernan MC.

BMJ Case Rep. 2025 Jan 27;18(1):e262043. doi: 10.1136/bcr-2024-262043.

Wernicke encephalopathy with active hallucinations during lung cancer treatment and hemodialysis: A case report

Hirata M, Ishida M, Onishi H.

Palliat Support Care. 2025 Jan 14;23:e22. doi: 10.1017/S1478951524001974.

'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.

CARP VIII antibody-related autoimmune cerebellar ataxia in a child after Mycoplasma pneumoniae infection: a case report

Li M, Han Z, Li J, Wang Q, Lv Z.

Front Immunol. 2025 Jan 14;15:1480212. doi: 10.3389/fimmu.2024.1480212. eCollection 2024.

Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties

Maximiano-Alves G, do Amaral Moreto Caravelas R, Gonçalves TAP, Corniani KF, Nather JC, Geraldi-Tomaselli CV, Frezatti RSS, Fernandes RMF, Dos Santos AC, Marques W, Tomaselli PJ.

Neurogenetics. 2025 Jan 15;26(1):20. doi: 10.1007/s10048-025-00800-3.

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.

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.

Effects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis

Matsugi A, Bando K, Kondo Y, Kikuchi Y, Miyata K, Hiramatsu Y, Yamanaka Y, Tanaka H, Okuda Y, Haruyama K, Yamasaki Y.

Front Neurol. 2025 Jan 10;15:1491142. doi: 10.3389/fneur.2024.1491142. eCollection 2024.