Artículos por temáticas

Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA).

Jiang X, Faber J, Giordano I, Machts J, Kindler C, Dudesek A, Speck O, Kamm C, Düzel E, Jessen F, Spottke A, Vielhaber S, Boecker H, Klockgether T, Scheef L.

Cerebellum. 2019 Oct;18(5):873-881. doi: 10.1007/s12311-019-01072-y.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Ciaccio C, Castello R, Esposito S, Pinelli M, Nigro V, Casari G, Chiapparini L, Pantaleoni C; TUDP Study Group., D'Arrigo S.

Cerebellum. 2019 Oct;18(5):972-975. doi: 10.1007/s12311-019-01069-7.

Exercise and Physical Therapy Interventions for Children with Ataxia: A Systematic Review.

Hartley H, Cassidy E, Bunn L, Kumar R, Pizer B, Lane S, Carter B.

Cerebellum. 2019 Oct;18(5):951-968. doi: 10.1007/s12311-019-01063-z. Review.

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.

Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG.

Cerebellum. 2019 Oct;18(5):849-854. doi: 10.1007/s12311-019-01064-y.

Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI

Lynch-Godrei A, De Repentigny Y, Yaworski RA, Gagnon S, Butcher J, Manoogian J, Stintzi A, Kothary R.

Neurogastroenterol Motil. 2020 Apr;32(4):e13773. doi: 10.1111/nmo.13773. Epub 2019 Dec 9.

Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6

Berardo A, Emmanuele V, Vargas W, Tanji K, Naini A, Hirano M.

J Neurol. 2020 Mar;267(3):823-829. doi: 10.1007/s00415-019-09619-z. Epub 2019 Nov 27.

Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report

Zhang L, Jia Y, Qi X, Li M, Wang S, Wang Y.

Childs Nerv Syst. 2020 Apr;36(4):873-875. doi: 10.1007/s00381-019-04399-3. Epub 2019 Nov 5.

Sequelae of Lassa Fever: Postviral Cerebellar Ataxia.

Ezeomah C, Adoga A, Ihekweazu C, Paessler S, Cisneros I, Tomori O, Walker D.

Open Forum Infect Dis. 2019 Dec 3;6(12):ofz512. doi: 10.1093/ofid/ofz512. eCollection 2019 Dec. Review.

Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia

Igoillo-Esteve M, Oliveira AF, Cosentino C, Fantuzzi F, Demarez C, Toivonen S, Hu A, Chintawar S, Lopes M, Pachera N, Cai Y, Abdulkarim B, Rai M, Marselli L, Marchetti P, Tariq M, Jonas JC, Boscolo M,

JCI Insight. 2020 Jan 30;5(2):e134221. doi: 10.1172/jci.insight.134221.

Complexin I knockout rats exhibit a complex neurobehavioral phenotype including profound ataxia and marked deficits in lifespan

Xu Y, Zhao XM, Liu J, Wang YY, Xiong LL, He XY, Wang TH.

Pflugers Arch. 2020 Jan;472(1):117-133. doi: 10.1007/s00424-019-02337-5. Epub 2019 Dec 24.

Exploring Risk of Falls and Dynamic Unbalance in Cerebellar Ataxia by Inertial Sensor Assessment.

Caliandro P, Conte C, Iacovelli C, Tatarelli A, Castiglia SF, Reale G, Serrao M.

Sensors (Basel). 2019 Dec 17;19(24). pii: E5571. doi: 10.3390/s19245571.

Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7

Stoyas CA, Bushart DD, Switonski PM, Ward JM, Alaghatta A, Tang MB, Niu C, Wadhwa M, Huang H, Savchenko A, Gariani K, Xie F, Delaney JR, Gaasterland T, Auwerx J, Shakkottai VG, La Spada AR.

Neuron. 2020 Feb 19;105(4):630-644.e9. doi: 10.1016/j.neuron.2019.11.019. Epub 2019 Dec 16.

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia

Dineen RA, Raschke F, McGlashan HL, Pszczolkowski S, Hack L, Cooper AD, Prasad M, Chow G, Whitehouse WP, Auer DP.

Neuroimage Clin. 2020;25:102110. doi: 10.1016/j.nicl.2019.102110. Epub 2019 Nov 26.

Age of onset determines intrinsic functional brain architecture in Friedreich ataxia

Naeije G, Wens V, Coquelet N, Sjøgård M, Goldman S, Pandolfo M, De Tiège XP.

Ann Clin Transl Neurol. 2020 Jan;7(1):94-104. doi: 10.1002/acn3.50966. Epub 2019 Dec 18.

Hematopoietic Stem Cell Transplantation Restores Naïve T-Cell Populations in Atm-Deficient Mice and in Preemptively Treated Patients With Ataxia-Telangiectasia.

Duecker R, Baer PC, Buecker A, Huenecke S, Pfeffermann LM, Modlich U, Bakhtiar S, Bader P, Zielen S, Schubert R.

Front Immunol. 2019 Nov 27;10:2785. doi: 10.3389/fimmu.2019.02785. eCollection 2019.