Artículos por temáticas

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature

Ghayal NB, Roemer SF, Tipton PW, Jiang P, Selner EM, Peck DS, Murakami A, Oglesbee D, Graff-Radford NR, Dickson DW.

Neurol Genet. 2024 Dec 23;11(1):e200227. doi: 10.1212/NXG.0000000000200227. eCollection 2025 Feb.

Awake versus asleep deep brain stimulation for Parkinson's disease: a comprehensive systematic review and meta-analysis

Maroufi SF, Fallahi MS, Hosseinzadeh Asli S, Khorasanizadeh M, Pour-Rashidi A, Ponce FA, Slavin KV.

J Neurosurg. 2024 Aug 16;142(2):324-338. doi: 10.3171/2024.4.JNS232553. Print 2025 Feb 1.

Ocular and neurological manifestations of the FDXR-related disorder

Kaler A, Couser N.

J AAPOS. 2024 Dec 31:104102. doi: 10.1016/j.jaapos.2024.104102. Online ahead of print.

Neuroacanthocytosis: Case report and neuroimaging findings

Alves LL, de Castro PL, Ferreira AB, de Campos LANB, da Fonseca PGM, Torres TD, Gomes MPDS, Maiolo VCA, Bahia PRV.

Radiol Case Rep. 2024 Nov 9;20(1):667-669. doi: 10.1016/j.radcr.2024.10.007. eCollection 2025 Jan.

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.

Case Report: Surgical management of medial collateral ligament calcification

You Y, Li Z, Guo J, Zhang T.

Front Surg. 2024 Dec 2;11:1506867. doi: 10.3389/fsurg.2024.1506867. eCollection 2024.

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant

Alghamdi MA, Hamad MH, Alghamdi I, Alghamdi G, Al-Jelaify M, Alshimemeri S, Hamed H, Adly N, Salih MA, Almontashiri NA, Bashiri FA.

Am J Med Genet A. 2024 Dec 20:e63964. doi: 10.1002/ajmg.a.63964. Online ahead of print.

Impact of somato-cognitive coordination therapy on activities of daily living in a patient with Huntington's disease

Shinmoto K, Torikai Y, Hara M.

BMJ Case Rep. 2024 Dec 4;17(12):e262695. doi: 10.1136/bcr-2024-262695.

Varicella zoster infection-associated progressive encephalomyelitis with rigidity and myoclonus in a 6-month follow-up

Wiederkehr I, Hor H, Wiederkehr M, Bachli E.

BMJ Case Rep. 2024 Dec 24;17(12):e262431. doi: 10.1136/bcr-2024-262431.

Gray Matter Asymmetry Alterations in Patients With Spinocerebellar Ataxia Type 3: A Voxel-Based Morphometric Comparison Study

Shi L, Ou L, Ou P, Deng L, Huang Y, Wang X, Gui L, Wang B, Dai L, Ma G, Wang J, Liu C.

CNS Neurosci Ther. 2024 Dec;30(12):e70171. doi: 10.1111/cns.70171.

Reassessing mirtazapine and akathisia: A case report on its efficacy in treating severe, treatment-resistant akathisia and a review of the evidence

Chidiac M, Elhusein B, Gajebasia N.

SAGE Open Med Case Rep. 2024 Nov 28;12:2050313X241299947. doi: 10.1177/2050313X241299947. eCollection 2024.

Meta-analysis and review of rechargeable implantable pulse generators for spinal cord stimulation and deep brain stimulation

Özgan D, Krieg SM, Jakobs M.

Brain Spine. 2024 Nov 26;4:104148. doi: 10.1016/j.bas.2024.104148. eCollection 2024.

Sleep-related movement disorders in children: recent updates

Cole M, Simakajornboon N.

World J Pediatr. 2024 Nov 28. doi: 10.1007/s12519-024-00856-5. Online ahead of print.

Machine Learning Approaches to Identify Affected Brain Regions in Movement Disorders Using MRI Data: A Systematic Review and Diagnostic Meta-analysis

Ghaderi S, Mohammadi M, Sayehmiri F, Mohammadi S, Tavasol A, Rezaei M, Ghalyanchi-Langeroudi A.

J Magn Reson Imaging. 2024 Dec;60(6):2518-2546. doi: 10.1002/jmri.29364. Epub 2024 Mar 27.

Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

Sund KL, Liu J, Lee J, Garbe J, Abdelhamed Z, Maag C, Hallinan B, Wu SW, Sperry E, Deshpande A, Stottmann R, Smolarek TA, Dyer LM, Hestand MS.

Am J Med Genet A. 2024 Dec;194(12):e63818. doi: 10.1002/ajmg.a.63818. Epub 2024 Jul 23.