Artículos por temáticas

Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.

Yang Y, Sun K, Liu W, Zhang L, Peng K, Zhang S, Li S, Yang M, Jiang Z, Lu F, Zhu X.

Cell Death Dis. 2018 Sep 5;9(9):899. doi: 10.1038/s41419-018-0938-6.

Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240.

Seki T, Sato M, Kibe Y, Ohta T, Oshima M, Konno A, Hirai H, Kurauchi Y, Hisatsune A, Katsuki H.

Neurobiol Dis. 2018 Sep 2;120:34-50. doi: 10.1016/j.nbd.2018.08.022. [Epub ahead of print]

Hereditary ataxia in four related Norwegian Buhunds.

Mari L, Matiasek K, Jenkins CA, De Stefani A, Ricketts SL, Forman O, De Risio L.

J Am Vet Med Assoc. 2018 Sep 15;253(6):774-780. doi: 10.2460/javma.253.6.774.

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

Ripolone M, Lucchini V, Ronchi D, Fagiolari G, Bordoni A, Fortunato F, Mondello S, Bonato S, Meregalli M, Torrente Y, Corti S, Comi GP, Moggio M, Sciacco M.

J Neurosci Res. 2018 Sep;96(9):1576-1585. doi: 10.1002/jnr.24263.

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP.

Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.

Safe Use of Epidural Analgesia in a Parturient With Spinocerebellar Ataxia: A Case Report.

Saraswat A, Gunasekaran S, Choksi N.

A A Pract. 2018 Sep 1;11(5):121-123. doi: 10.1213/XAA.0000000000000757.

Prediction of Electrode Contacts for Clinically Effective Deep Brain Stimulation in Essential Tremor.

Åström M, Samuelsson J, Roothans J, Fytagoridis A, Ryzhkov M, Nijlunsing R, Blomstedt P.

Stereotact Funct Neurosurg. 2018 Sep 28:1-8. doi: 10.1159/000492230. [Epub ahead of print]

Systematic analysis of genetic variants in patients with essential tremor.

Yuan L, Deng X, Song Z, Deng S, Zheng W, Mao P, Deng H.

Brain Behav. 2018 Sep 5:e01100. doi: 10.1002/brb3.1100. [Epub ahead of print]

Validation of a precision tremor measurement system for multiple sclerosis.

Perera T, Lee WL, Yohanandan SAC, Nguyen AL, Cruse B, Boonstra FMC, Noffs G, Vogel AP, Kolbe SC, Butzkueven H, Evans A, van der Walt A.

J Neurosci Methods. 2018 Sep 19. pii: S0165-0270(18)30289-9. doi: 10.1016/j.jneumeth.2018.09.022. [Epub ahead of print]

Walking in orthostatic tremor modulates tremor features and is characterized by impaired gait stability.

Wuehr M, Schlick C, Möhwald K, Schniepp R.

Sci Rep. 2018 Sep 20;8(1):14152. doi: 10.1038/s41598-018-32526-8.

Resolution of unilateral upper limb action tremor after surgical treatment of a contralateral frontoparietal arachnoid cyst.

Cova I, Contri P, Pantoni L, Pomati S.

Neurol Sci. 2018 Sep 19. doi: 10.1007/s10072-018-3559-z. [Epub ahead of print]

Teaching Video NeuroImages: The signs of dystonic tremor: Tremulous escanciador"."

Sharma J, Macias-Garcia D, Zaidi A, Espay AJ.

Neurology. 2018 Sep 18;91(12):e1204-e1205. doi: 10.1212/WNL.0000000000006215. No abstract available.

Benefits and risks of unilateral and bilateral ventral intermediate nucleus deep brain stimulation for axial essential tremor symptoms.

Mitchell KT, Larson P, Starr PA, Okun MS, Wharen RE Jr, Uitti RJ, Guthrie BL, Peichel D, Pahwa R, Walker HC, Foote K, Marshall FJ, Jankovic J, Simpson R, Phibbs F, Neimat JS, Stewart RM, Dashtipour K,

Parkinsonism Relat Disord. 2018 Sep 6. pii: S1353-8020(18)30389-4. doi: 10.1016/j.parkreldis.2018.09.004. [Epub ahead of print]

Repeated Spiral Drawings in Essential Tremor: a Possible Limb-Based Measure of Motor Learning.

Kim CY, Luo L, Yu Q, Mirallave A, Saunders-Pullman R, Lipton RB, Louis ED, Pullman SL.

Cerebellum. 2018 Sep 11. doi: 10.1007/s12311-018-0974-x. [Epub ahead of print]

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.

Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS.

J Med Genet. 2018 Sep 7. pii: jmedgenet-2018-105484. doi: 10.1136/jmedgenet-2018-105484. [Epub ahead of print]