Artículos por temáticas

EVIDENCE FOR ADRENAL DYSFUNCTION CONTRIBUTING TO PERACUTE MORTALITY SYNDROME IN RED PANDA (AILURUS FULGENS)

Kane LP, Aitken-Palmer C, Parkinson L, Kuzma CA, Colegrove KM, Delaney MA.

J Zoo Wildl Med. 2024 Dec;55(4):1104-1113. doi: 10.1638/2023-0029.

Case report: Treatment of non-medical tetrahydrocannabinol toxicosis with transmucosal cannabidiol-infused dissolving sheets in six dogs

Marsigliano K, Green K, DiGangi BA.

Front Vet Sci. 2024 Dec 9;11:1448123. doi: 10.3389/fvets.2024.1448123. eCollection 2024.

Insights into Dentatorubral-Pallidoluysian Atrophy from a new Drosophila model of disease

Prifti MV, Nuga O, Dulay RO, Patel NC, Kula T, Libohova K, Jackson-Butler A, Tsou WL, Richardson K, Todi SV.

bioRxiv [Preprint]. 2024 Dec 10:2024.12.05.627083. doi: 10.1101/2024.12.05.627083.

Correction: Bright middle cerebellar peduncle sign in multiple system atrophy with predominant cerebellar ataxia is more apparent in double-inversion recovery imaging than in conventional imaging

Shiraishi W, Matsuyoshi A, Nakazawa Y, Inamori Y, Yogi A, Hashimoto T.

PLoS One. 2024 Dec 2;19(12):e0315022. doi: 10.1371/journal.pone.0315022. eCollection 2024.

Case report: Giant meningioma of the left hemisphere

Cui J, Sun H, Sun S, Zhao H, Gu Y.

Front Oncol. 2024 Dec 6;14:1506297. doi: 10.3389/fonc.2024.1506297. eCollection 2024.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Holling T, Abdelrazek IM, Elhady GM, Abd Elmaksoud M, Ryu SW, Abdalla E, Kutsche K.

J Hum Genet. 2024 Dec;69(12):623-628. doi: 10.1038/s10038-024-01279-w. Epub 2024 Jul 31.

The volume of the subthalamic nucleus in spinocerebellar ataxia type 3: potential relevance for the clinical phenotype and treatment of parkinsonian symptoms with deep brain stimulation

Minnerop M, Pieperhoff P, Elben S, Hartmann CJ, Müttel T, Kahlen U, Wüllner U, Klockgether T, Wojtecki L, Caspers S, Amunts K, Vesper J, Schnitzler A, Groiss SJ.

J Neurol. 2024 Dec 12;272(1):16. doi: 10.1007/s00415-024-12792-5.

'The phenotypic conundrum of Trp748Ser variant in POLG gene: a report of two patients'

Rathore A, Arunachal G, Mahale RR, Padmanabha H, Mailankody P.

Acta Neurol Belg. 2024 Dec;124(6):2059-2062. doi: 10.1007/s13760-024-02640-8. Epub 2024 Sep 28.

Whip It Good: A Case of Vitamin B12 Deficiency and Subacute Combined Degeneration of the Spinal Cord

Pourshams IA, Arora M, Nimkar S, Kumbham P.

Cureus. 2024 Nov 27;16(11):e74620. doi: 10.7759/cureus.74620. eCollection 2024 Nov.

Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease

Breuss A, Strasser M, Nuoffer JM, Klein A, Perret-Hoigné E, Felder C, Stauffer R, Wolf P, Riener R, Gautschi M.

J Sleep Res. 2024 Dec;33(6):e14153. doi: 10.1111/jsr.14153. Epub 2024 Mar 18.

Correction to: Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder

Hum Mol Genet. 2024 Dec 6;33(24):2177. doi: 10.1093/hmg/ddae145.

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy

Agianda HAP, Tam A, Kunta A, Zubair U, Saffari A, Rong J, Crough M, Srouji R, Quiroz V, Yang K, Schierbaum L, Ebrahimi-Fakhari D.

Mov Disord Clin Pract. 2024 Dec 27. doi: 10.1002/mdc3.14322. Online ahead of print.

A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report

Sobrinho LMF, Silva TO, Refosco LF, Poloni S, Poswar FO, de Souza CFM, Sperb-Ludwig F, Schwartz IVD.

Mol Genet Metab Rep. 2024 Nov 19;41:101164. doi: 10.1016/j.ymgmr.2024.101164. eCollection 2024 Dec.

Overlap of Miller-Fisher Syndrome and Pharyngeal-Cervical-Brachial Variant Secondary to COVID-19 in Recurrent Guillain-Barré Syndrome: A Case Report

Hammad T, Hossain S, Alayyan A.

Cureus. 2024 Dec 2;16(12):e74954. doi: 10.7759/cureus.74954. eCollection 2024 Dec.

Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient

Sather RN 3rd, Brown C, Montezuma SR.

Ophthalmic Genet. 2024 Dec;45(6):657-662. doi: 10.1080/13816810.2024.2388598. Epub 2024 Aug 16.