Artículos por temáticas

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

Corbett MA, Depienne C, Veneziano L, Klein KM, Brancati F, Guerrini R, Zara F, Tsuji S, Gecz J.

Epilepsia. 2023 Jun;64 Suppl 1:S14-S21. doi: 10.1111/epi.17610. Epub 2023 Apr 17.

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China

Xie H, Lin S, Chen Y, Wang W, Qi Y, Li J, Chen Q, Feng X.

Medicine (Baltimore). 2023 Jun 16;102(24):e33890. doi: 10.1097/MD.0000000000033890.

Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar-Thalamic-Cortical Loop

Cuccurullo C, Striano P, Coppola A.

Cells. 2023 Jun 13;12(12):1617. doi: 10.3390/cells12121617.

Myoclonic status epilepticus in patients with juvenile myoclonic epilepsy: Case reports and review of the literature

Pascarella A, Manzo L, Marsico O, Gasparini S, Mechelli A, Cianci V, Bova V, Mammì A, Ieracitano R, Aguglia U, Ferlazzo E.

Epileptic Disord. 2023 Jun;25(3):429-433. doi: 10.1002/epd2.20042. Epub 2023 May 24.

Deep brain stimulation for Myoclonus in sialidosis I

Liu JY, Ouyang Y, Lv H, Liu Y, Yu HM, Hu JQ, Chu DW, Li ZP, Ou SW, Wang J.

Parkinsonism Relat Disord. 2023 Jun;111:105434. doi: 10.1016/j.parkreldis.2023.105434. Epub 2023 May 6.

Autoimmune Cerebellar Ataxia: Etiology and Clinical Characteristics of a Case Series from China

Liu M, Ren H, Zhu Y, Fan S, Bai L, Wang J, Cui L, Guan H.

Cerebellum. 2023 Jun;22(3):379-385. doi: 10.1007/s12311-022-01412-5. Epub 2022 May 26.

Movement disorders rounds: Different types of tremor and myoclonus in an atypical case of shaking upon standing: Expert commentary

Deuschl G.

Parkinsonism Relat Disord. 2023 Jun;111:105391. doi: 10.1016/j.parkreldis.2023.105391. Epub 2023 Apr 3.

[(18)F]FDG PET in conditions associated with hyperkinetic movement disorders and ataxia: a systematic review

Timmers ER, Klamer MR, Marapin RS, Lammertsma AA, de Jong BM, Dierckx RAJO, Tijssen MAJ.

Eur J Nucl Med Mol Imaging. 2023 Jun;50(7):1954-1973. doi: 10.1007/s00259-023-06110-w. Epub 2023 Jan 27.

Familial adult myoclonus epilepsy: Neuroimaging and neuropathological findings

van Rootselaar AF, Cocozza S, Aronica E, Striano P.

Epilepsia. 2023 Jun;64 Suppl 1:S47-S51. doi: 10.1111/epi.17628. Epub 2023 May 6.

Hypomagnesemia: A Rare Cause of Movement Disorders, Myopathy and Vertical Nystagmus

Ray S, Kamath VV, Jadhav SR, Rajesh KN.

Mov Disord Clin Pract. 2023 Apr 12;10(6):1001-1003. doi: 10.1002/mdc3.13735. eCollection 2023 Jun.

Different types of tremor and myoclonus in an atypical case of shaking upon standing

Grippe T, Fasano A, Chen R.

Parkinsonism Relat Disord. 2023 Jun;111:105175. doi: 10.1016/j.parkreldis.2022.09.014. Epub 2023 Jun 2.

Cerebrospinal Fluid Anti-Neuronal Autoantibodies in COVID-19-Associated Limbic Encephalitis with Acute Cerebellar Ataxia and Myoclonus Syndrome: Case Report and Literature Review

Yiannopoulou K, Vakrakou AG, Anastasiou A, Nikolopoulou G, Sourdi A, Tzartos JS, Kilidireas C, Dimitrakopoulos A.

Diagnostics (Basel). 2023 Jun 14;13(12):2055. doi: 10.3390/diagnostics13122055.

Neuroblastic Tumor Recurrence Associated With Opsoclonus Myoclonus Ataxia Syndrome Relapse a Decade After Initial Resection and Treatments

Bacchus MK, Anderson DS, Berko ER, States LJ, Bagatell R, Hopkins SE, Batra V.

J Pediatr Hematol Oncol. 2023 Apr 1;45(3):152-154. doi: 10.1097/MPH.0000000000002643. Epub 2023 Feb 20.

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings

Meşen S, Batur M, Ozer MD.

Arq Bras Oftalmol. 2023 Apr 3:S0004-27492023005001203. doi: 10.5935/0004-2749.2022-0069. Online ahead of print.

Pharmacological responsiveness of periodic limb movements in patients with restless legs syndrome: a systematic review and meta-analysis

Riccardi S, Ferri R, Garbazza C, Miano S, Manconi M.

J Clin Sleep Med. 2023 Apr 1;19(4):811-822. doi: 10.5664/jcsm.10440.