Artículos por temáticas

Fast micrographia and frontal lobe dysfunction post-traumatic brain injury: insights into pacing impairment and rehabilitation strategy

Fukui J, Yamaga T, Anmoto N, Inagaki A.

BMJ Case Rep. 2025 Jan 21;18(1):e262065. doi: 10.1136/bcr-2024-262065.

A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report

Costa A, Pereira D, Malaquias MJ, Brandão AF, Oliveira J, Magalhães M.

Int J Mol Sci. 2025 Jan 19;26(2):809. doi: 10.3390/ijms26020809.

The natural history of CDKL5 deficiency disorder into adulthood

Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, Fenger CD, Laze J, Rossi A, Trivisano M, Gonzalez-Giraldez B, Lama J, Krey I, Platzer K, Brischoux-Boucher E, Sarret C, Lomax

medRxiv [Preprint]. 2025 Jan 13:2025.01.12.24318239. doi: 10.1101/2025.01.12.24318239.

REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case

Strehle EM, Battini R, Gowda V, Kuster A, Amin S, Bertoldi M, Perduca M, Leuzzi V, Johnson S, Lupo P, Liu E, Fox E, Werner C.

Genet Test Mol Biomarkers. 2025 Jan;29(1):12-18. doi: 10.1089/gtmb.2024.0427.

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.

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.

Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4)

Ramakrishnan S, Mohan N, Dong Z, Liu M, Qiang L.

Mov Disord. 2024 Nov 29. doi: 10.1002/mds.30072. Online ahead of print.

Anticholinergic drugs for parkinsonism and other movement disorders

LeWitt PA, Hong L, Moehle MS.

J Neural Transm (Vienna). 2024 Dec;131(12):1481-1494. doi: 10.1007/s00702-024-02799-7. Epub 2024 Jun 21.

Medication Use and Treatment Indications in Huntington's Disease; Analyses from a Large Cohort

Feleus S, Skotnicki LEM, Roos RAC, de Bot ST.

Mov Disord Clin Pract. 2024 Dec;11(12):1530-1541. doi: 10.1002/mdc3.14230. Epub 2024 Oct 21.

Drug-induced parkinsonism: diagnosis and treatment

Conn H, Jankovic J.

Expert Opin Drug Saf. 2024 Dec;23(12):1503-1513. doi: 10.1080/14740338.2024.2418950. Epub 2024 Oct 25.

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

Vieira SRL, Mezabrovschi R, Toffoli M, Del Pozo SL, Menozzi E, Mullin S, Yalkic S, Limbachiya N, Koletsi S, Loefflad N, Lopez GJ, Gan-Or Z, Alcalay RN, Sidransky E, Schapira AHV.

Mov Disord. 2024 Dec;39(12):2144-2154. doi: 10.1002/mds.30006. Epub 2024 Sep 11.