Artículos por temáticas

Physiotherapy management focusing on proprioceptive impairment in a patient with gait and balance impairments following stroke: A case report

Takahashi A, Kitsunai S, Kawana H, Saito N, Yoshihara A, Furukawa K.

Physiother Theory Pract. 2025 Feb;41(2):432-446. doi: 10.1080/09593985.2024.2332792. Epub 2024 Mar 22.

Determination of Vatiquinone Drug-Drug Interactions, as CYP450 Perpetrator and Victim, Using Physiologically Based Pharmacokinetic (PBPK) Modeling and Simulation

Lee L, Okudaira N, Murase K, Kong R, Jones HM.

J Clin Pharmacol. 2025 Feb;65(2):160-169. doi: 10.1002/jcph.6133. Epub 2024 Sep 23.

Integrative Analysis of Metabolome and Proteome in the Cerebrospinal Fluid of Patients with Multiple System Atrophy

George NP, Kwon M, Jang YE, Kim SG, Hwang JS, Lee SS, Lee G.

Cells. 2025 Feb 12;14(4):265. doi: 10.3390/cells14040265.

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

Del Greco C, Kuo ME, Smith DEC, Mendes MI, Salamons GS, Nemcovic M, Kodrikova R, Sestak S, Stancheva M, Antonellis A.

Mol Genet Genomic Med. 2025 Feb;13(2):e70078. doi: 10.1002/mgg3.70078.

An autopsy case of coexisting spinal and bulbar muscular atrophy and multiple system atrophy

Miura M, Shintaku H, Numasawa Y, Ozaki K, Kanouchi T, Ishikawa K, Yokota T.

Neuropathology. 2025 Feb 6. doi: 10.1111/neup.13031. Online ahead of print.

Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca(2+) overload

Li H, Ma Q, Xue Y, Cai L, Bao L, Hong L, Zeng Y, Huang SZ, Finnell RH, Zeng F.

Sci China Life Sci. 2025 Feb;68(2):484-501. doi: 10.1007/s11427-023-2549-2. Epub 2024 Oct 11.

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Sartorelli J, Pomponi MG, Garone G, Vasco G, Cumbo F, Colona VL, D'Amico A, Bertini E, Nicita F.

Brain Sci. 2025 Feb 4;15(2):156. doi: 10.3390/brainsci15020156.

Intravascular large B-cell lymphoma of the central nervous system with renal involvement: a case report and literature review

Li J, Li Z, Shi Y, Chen J, Zhao H, Mao X, Li S, Wang H, Meng Q, Liu L.

Front Oncol. 2025 Jan 30;15:1502574. doi: 10.3389/fonc.2025.1502574. eCollection 2025.

Unveiling the prenatal features of HADDS: A case report and literature review

Hu L, Li D, Zhen L, Wang Y.

Heliyon. 2025 Jan 10;11(2):e41591. doi: 10.1016/j.heliyon.2024.e41591. eCollection 2025 Jan 30.

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family

Kalayinia S, Hesami H, Badv RS, Rabbani M, Rezaei Z, Hosseinkhani Z, Nikbakht S, Sharifi A, Akbari B, Mirab Samiee S, Mahdieh N.

Mol Genet Genomic Med. 2025 Feb;13(2):e70081. doi: 10.1002/mgg3.70081.

The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient

Türkdoğan D, Smolina N, Tekgül Ş, Gül T, Yeşilyurt A, Houlden H, Zuchner S, Brais B, Pellerin D, Başak AN.

Mov Disord. 2025 Feb;40(2):370-375. doi: 10.1002/mds.30087. Epub 2024 Dec 20.

Case report: Successful treatment of a thallium sulfate intoxication in a dog with use of Prussian blue

McDermott FM, Kan AA, Hunault CC, Robben JH, de Lange DW, Dijkman MA.

Front Vet Sci. 2025 Feb 5;12:1528327. doi: 10.3389/fvets.2025.1528327. eCollection 2025.

Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene

Yari A, Dalvand L, Moghaddam BE, Khorasani NN, Esmaeili F, Attari R, Gohari AK, Vafaeie F, Jafarinejad-Farsangi S, Khoshnazar S, Saeidi K.

Neurol Sci. 2025 Feb;46(2):911-927. doi: 10.1007/s10072-024-07834-9. Epub 2024 Nov 28.

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa

Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY.

Pharmgenomics Pers Med. 2025 Feb 3;18:47-53. doi: 10.2147/PGPM.S501623. eCollection 2025.

Effect of a Supratherapeutic Dose of Omaveloxolone on the Corrected QT Interval in Healthy Participants: A Randomized, Double-Blind, Placebo- and Active-Controlled, Three-Way Crossover Study

Zahir H, Murai M, Wu L, Valentine M, Hynes SM.

Clin Transl Sci. 2025 Feb;18(2):e70139. doi: 10.1111/cts.70139.