Artículos por temáticas

Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders

Zea Vera A, Bruce A, Larsh TR, Jordan Z, Brüggemann N, Westenberger A, Espay AJ, Gilbert DL, Wu SW.

Mov Disord Clin Pract. 2022 Dec 23;10(2):316-322. doi: 10.1002/mdc3.13635. eCollection 2023 Feb.

"Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76

Agarwal A, Oinam R, Goel V, Sharma P, Faruq M, Garg A, Srivastava AK.

Mov Disord Clin Pract. 2022 Nov 17;10(1):120-123. doi: 10.1002/mdc3.13606. eCollection 2023 Jan.

Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia

McNutt MC, Foreman N, Gotway G.

Mov Disord Clin Pract. 2022 Nov 22;10(1):109-114. doi: 10.1002/mdc3.13612. eCollection 2023 Jan.

Spastic muscle stiffness evaluated using ultrasound elastography and evoked electromyogram in patients following severe traumatic brain injury: an observational study

Matsumoto-Miyazaki J, Sawamura S, Nishibu Y, Okada M, Ikegame Y, Asano Y, Yano H, Shinoda J.

Brain Inj. 2022 Dec 6;36(12-14):1331-1339. doi: 10.1080/02699052.2022.2140196. Epub 2022 Oct 31.

A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus

Olgac A, Yildiz E, Yilmaz A, Kasapkara CS, Ceylaner S, Alioglu B.

J Coll Physicians Surg Pak. 2022 Dec;32(12):1629-1631. doi: 10.29271/jcpsp.2022.12.1629.

Adult-onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report

Forbes E, Smith K, Petluru M, Nystrom J, Fridman V.

J Peripher Nerv Syst. 2022 Dec;27(4):320-324. doi: 10.1111/jns.12511. Epub 2022 Oct 11.

Accidental organophosphate poisoning: A case series of 2 pediatric coumaphos exposures

Seltzer JA, Friedland S, Friedman NA, Winkler GA, Foreman E, Al Mubarak Y, Buccine B, Engorn B, Kreshak A, Minns A, Tomaszewski CA, Lasoff DR, Clark RF.

J Am Coll Emerg Physicians Open. 2022 Dec 1;3(6):e12859. doi: 10.1002/emp2.12859. eCollection 2022 Dec.

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants

Gable DL, Mo A, Estrella E, Saffari A, Ghosh PS, Ebrahimi-Fakhari D.

Am J Med Genet A. 2022 Dec;188(12):3531-3534. doi: 10.1002/ajmg.a.62953. Epub 2022 Aug 17.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome

Wang Q, Qin T, Wang X, Li J, Lin X, Wang D, Lin Z, Zhang X, Li X, Lin H, Chen W.

Genes (Basel). 2022 Dec 14;13(12):2364. doi: 10.3390/genes13122364.

Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly

Brady LI, DeFrance B, Tarnopolsky M.

Mol Syndromol. 2022 Dec;13(5):419-424. doi: 10.1159/000522486. Epub 2022 Mar 15.

Effects of hippotherapy simulation exercise vs. conventional home exercises on muscle strength and balance in people with multiple sclerosis: A randomized controlled trial

Salbaş E, Karahan AY.

Mult Scler Relat Disord. 2022 Dec;68:104111. doi: 10.1016/j.msard.2022.104111. Epub 2022 Aug 19.

Goal Attainment after Treatment with Abobotulinumtoxina and a Tailored Home Therapy Programme in Children with Upper Limb Spasticity: Descriptive, Exploratory Analysis of a Large Randomized, Controlled Study

Carranza-Del Río J, Dursun N, Cekmece C, Bonikowski M, Pyrzanowska W, Dabrowski E, Tilton A, Oleszek J, Volteau M, Page S, Shierk A, Delgado MR.

J Rehabil Med. 2022 Dec 9;54:jrm00349. doi: 10.2340/jrm.v54.2540.

Do randomised controlled trials evaluating functional outcomes following botulinum neurotoxin-A align with focal spasticity guidelines? A systematic review

Sutherland E, Hill B, Singer BJ, Ashford S, Hoare B, Hastings-Ison T, Fheodoroff K, Berwick S, Dobson F, Williams G.

Disabil Rehabil. 2022 Dec;44(26):8515-8523. doi: 10.1080/09638288.2021.2011437. Epub 2022 Jan 4.

Childhood-onset hereditary spastic paraplegia and its treatable mimics

Ebrahimi-Fakhari D, Saffari A, Pearl PL.

Mol Genet Metab. 2022 Dec;137(4):436-444. doi: 10.1016/j.ymgme.2021.06.006. Epub 2021 Jun 24.

Gait robot-assisted rehabilitation in persons with spinal cord injury: A scoping review

Stampacchia G, Gazzotti V, Olivieri M, Andrenelli E, Bonaiuti D, Calabro RS, Carmignano SM, Cassio A, Fundaro C, Companini I, Mazzoli D, Cerulli S, Chisari C, Colombo V, Dalise S, Mazzoleni D, Melegar

NeuroRehabilitation. 2022 Dec 9. doi: 10.3233/NRE-220061. Online ahead of print.