Artículos por temáticas

Sex specific disruptions in Protein Kinase Cγ signaling in a mouse model of Spinocerebellar Ataxia Type 14

Wolfe SA, Ma Y, Pilo CA, Chang C, Ghassemian M, Roberts AJ, Lee SR, Gorrie G, Taylor SS, Newton AC.

bioRxiv [Preprint]. 2025 Feb 10:2025.02.10.637267. doi: 10.1101/2025.02.10.637267.

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

Ma M, Ma J, Lian Y, Wu X, Wang W, Rong W, Sheng X.

Mol Genet Genomic Med. 2025 Feb;13(2):e70055. doi: 10.1002/mgg3.70055.

[A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment]

Shimozato M, Sakurai T, Yaguchi T, Shimohata T, Nishida H.

Rinsho Shinkeigaku. 2025 Feb 21;65(2):132-138. doi: 10.5692/clinicalneurol.cn-002026. Epub 2025 Jan 29.

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia

Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S.

Am J Med Genet A. 2025 Feb;197(2):e63890. doi: 10.1002/ajmg.a.63890. Epub 2024 Sep 26.

Inositol 1,4,5-Trisphosphate Receptor Mutations Associated with Human Disease: Insights into Receptor Function and Dysfunction

Arige V, MacLean DM, Yule DI.

Annu Rev Physiol. 2025 Feb;87(1):201-228. doi: 10.1146/annurev-physiol-022724-105627. Epub 2025 Feb 3.

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus

Chen L, Bu Y, Yu Y, Chen Y, Lei X.

Eur J Med Genet. 2025 Feb;73:104988. doi: 10.1016/j.ejmg.2024.104988. Epub 2024 Dec 19.

Sialidosis type 1 in a Turkish family: a case report and review of literatures

Kılıç M, İcil S, Sezer A, Kaya-Güneş Ö, Comoğlu SS.

J Pediatr Endocrinol Metab. 2024 Dec 30;38(2):176-186. doi: 10.1515/jpem-2024-0468. Print 2025 Feb 25.

Tachycardiomyopathy Treated With Ablation by Using 3D Mapping System in a Patient With Friedreich Ataxia

Hayıroğlu Mİ, Kalenderoğlu K, Gürkan K.

Pacing Clin Electrophysiol. 2025 Feb;48(2):227-229. doi: 10.1111/pace.15125. Epub 2024 Dec 24.

First case report on Bickerstaff brainstem encephalitis in a young adult from Syria: Bridging clinical knowledge and practice

Almohamed A, Qatza A, Alsamman H, Hamsho S, Atia M, Tamer R, Ali AM, Kazkz W.

Radiol Case Rep. 2024 Dec 3;20(2):1211-1214. doi: 10.1016/j.radcr.2024.11.006. eCollection 2025 Feb.

Multiple system atrophy related neurogenic bladder: mechanism and treatment

Ren G, Wang Y, Tian H, Zhang K, Zhang H, Liu X, Chen Z.

Neurol Sci. 2025 Jan 29. doi: 10.1007/s10072-025-08002-3. Online ahead of print.

Reply to: "Two Families with ANO10-Related Spinocerebellar Ataxia with Novel Exon Deletions: A First Report from India"

Milovanović A, Westenberger A, Dragašević-Mišković N.

Mov Disord. 2025 Feb;40(2):387-388. doi: 10.1002/mds.30108. Epub 2025 Jan 8.

Sensitivity of Cerebellar Reaching Ataxia to Kinematic and Dynamic Demands

Oh K, Cao D, Cowan NJ, Bastian AJ.

bioRxiv [Preprint]. 2025 Feb 8:2024.10.28.620711. doi: 10.1101/2024.10.28.620711.

A Novel Myoclonus-Ataxic Presentation of Chronic Lead Toxicity

Holla VV, Sharma P, Kamble N, Yadav R, Pal PK.

Mov Disord Clin Pract. 2025 Feb 27. doi: 10.1002/mdc3.70024. Online ahead of print.

NARS1-Related Neurologic Disorders

Efthymiou S, Nagy S, Aynekin B, Houlden H.

2025 Feb 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

Movement Disorders after Dengue Virus Infection: A Scoping Review

Rosca EC, Garg D, Perez-Lloret S, Mohamed Ibrahim N, Phokaewvarangkul O, Sringean J, Holla V, Yadav R, Desai S, Pal PK.

Mov Disord. 2025 Feb 8. doi: 10.1002/mds.30142. Online ahead of print.