Artículos por temáticas

Pseudodominance in RFC1-Spectrum Disorder

Falcone GMI, Tessa A, Arena IG, Barghigiani M, Migliorato A, Incensi A, Rodolico C, Donadio V, Santorelli FM, Musumeci O.

Cerebellum. 2024 Dec;23(6):2622-2628. doi: 10.1007/s12311-024-01735-5. Epub 2024 Sep 4.

Autoimmune Neurobeachin Cerebellar Ataxia

Basal E, Gilligan M, Lesnick C, McKeon A.

Mov Disord. 2024 Dec;39(12):2271-2275. doi: 10.1002/mds.29991. Epub 2024 Aug 20.

The potential hazards of high doses of vitamin B6 in treating nausea and vomiting in pregnancy: A systematic review

He L, Fan Y, Hu Y, Tian C, Tian Y, Zhang J, Ren Y, Tan J.

Int J Gynaecol Obstet. 2024 Nov 21. doi: 10.1002/ijgo.16032. Online ahead of print.

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders

Nakano Y, Kuiper RP, Nichols KE, Porter CC, Lesmana H, Meade J, Kratz CP, Godley LA, Maese LD, Achatz MI, Khincha PP, Savage SA, Doria AS, Greer MC, Chang VY, Wang LL, Plon SE, Walsh MF.

Clin Cancer Res. 2024 Nov 15;30(22):5009-5020. doi: 10.1158/1078-0432.CCR-24-1098.

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series

Ganguly J, Garg D, Chandarana M, Basu P, Pandita N, Mukherjee S, Singh N, Rawool A, Sannyasi G, Kumar P, Kumar H.

Parkinsonism Relat Disord. 2024 Nov;128:107152. doi: 10.1016/j.parkreldis.2024.107152. Epub 2024 Sep 17.

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers

Thomas J, George A, Mrittika S, Ahmad B, Wilcox G.

Cureus. 2024 Nov 19;16(11):e74028. doi: 10.7759/cureus.74028. eCollection 2024 Nov.

Lack of Concentration-QTc Relationship and Cardiac Risk With Vatiquinone Therapeutic and Supratherapeutic Doses

Lee L, Flach S, Xue H, Arivelu L, Golden L, Kong R, Darpo B.

Clin Pharmacol Drug Dev. 2024 Nov;13(11):1227-1238. doi: 10.1002/cpdd.1476. Epub 2024 Oct 17.

A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay

Magalie LP, Yline C, Olivier P, Blandine DP, Nathalie C.

Am J Med Genet A. 2024 Nov 9:e63937. doi: 10.1002/ajmg.a.63937. Online ahead of print.

Posterior Circulation Ischemic Stroke From Atlantoaxial Instability and Lateral Dislocation due to Os Odontoideum: Case Report and Review of Literature

Wang X, Li Y, Shao M, Liang J, Tang W, Lin J, Ma X, Wang H, Han X.

Orthop Surg. 2024 Nov;16(11):2868-2873. doi: 10.1111/os.14261. Epub 2024 Oct 12.

Subacute Combined Degeneration of the Spinal Cord Caused by an Impairment in the Functional Vitamin B12 Metabolic Pathway

Al-Jizani AS, Pathak S, Palit P, Achufusi N.

Cureus. 2024 Nov 13;16(11):e73617. doi: 10.7759/cureus.73617. eCollection 2024 Nov.

[Clinical and genetic analysis of a patient with Ataxia and vitamin E deficiency due to homozygous variant of TTPA gene]

Wang M, Xiang C, Hong Z, Ma L, Zhang M, Zhang Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Nov 10;41(11):1335-1343. doi: 10.3760/cma.j.cn511374-20240103-00006.

Acute myeloid leukemia-M1 in a horse with neurologic signs and necrotizing enterocolitis

Lee J, Mordoh S, Mirza M, Carossino M, Del Piero F.

J Vet Diagn Invest. 2024 Nov;36(6):836-841. doi: 10.1177/10406387241268322. Epub 2024 Sep 4.

Immune-mediated neurological syndromes associated with childhood cancers

Rossor T, Tewari S, Gadian J, Kaliakatsos M, Angelini P, Lim M.

Eur J Paediatr Neurol. 2024 Oct 31;53:174-181. doi: 10.1016/j.ejpn.2024.10.013. Online ahead of print.

Microsurgical treatment of spinal intradural capillary hemangioma: A consecutive case series of 18 patients and literature review

Cai Z, Hong X, Zhang Z, Ding X, Sun W, Hu G.

Clin Neurol Neurosurg. 2024 Nov;246:108527. doi: 10.1016/j.clineuro.2024.108527. Epub 2024 Sep 3.

PHARC syndrome: an overview

Harutyunyan L, Callaerts P, Vermeer S.

Orphanet J Rare Dis. 2024 Nov 5;19(1):416. doi: 10.1186/s13023-024-03418-0.