Artículos por temáticas

Primary myelofibrosis with concurrent paroxysmal nocturnal haemoglobinuria presenting with erectile dysfunction

Alsalman Z, Alsalman M, Albesher M, Alsalman A, Saif S, Aldandan A, Alsuliman A.

Oxf Med Case Reports. 2022 May 23;2022(5):omac047. doi: 10.1093/omcr/omac047. eCollection 2022 May.

Retrocollis as the cardinal feature in a de novo ITRP1 variant

Zachou A, Palaiologou D, Kanavakis E, Anagnostou E.

Brain Dev. 2022 May;44(5):347-352. doi: 10.1016/j.braindev.2022.01.005. Epub 2022 Feb 9.

Whole-Exome Sequencing Identified Rare Variants in PCDHGB1 in Patients with Adult-Onset Dystonia

Li LX, Huang JH, Pan LZ, Zhang XL, Pan YG, Jin LJ.

Mov Disord. 2022 May;37(5):1099-1101. doi: 10.1002/mds.28965. Epub 2022 Mar 1.

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update

Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C,

Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders

Lacombe D, Van-Gils J, Lebrun M, Trimouille A, Michaud V, Cabet S, Chateil JF, Pedespan JM, Bar C, Lesca G.

Brain Dev. 2022 May 24:S0387-7604(22)00082-1. doi: 10.1016/j.braindev.2022.05.001. Online ahead of print.

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

Grosz BR, Tisch S, Tchan MC, Fung VSC, Darveniza P, Fellner A, Kurian MA, McLean A, Tomlinson SE, Smyth R, Devery S, Wu KHC, Kennerson ML, Kumar KR.

Mol Genet Genomic Med. 2022 May;10(5):e1923. doi: 10.1002/mgg3.1923. Epub 2022 Mar 16.

Dystonia and Optic Neuropathy: Expanded Phenotype of Dynactin 1 Related Neurodegeneration

Mehta S, Goel A, Singh D, Ray S, Tigari B, Takkar A, Lal V.

Mov Disord Clin Pract. 2022 Feb 16;9(4):535-539. doi: 10.1002/mdc3.13424. eCollection 2022 May.

Isolated speech-induced lingual dystonia successfully treated with botulinum neurotoxin

Cores-Bartolomé C, Paz-González JM, García-Antelo MJ, Santos-García D.

Neurologia (Engl Ed). 2022 May;37(4):306-308. doi: 10.1016/j.nrleng.2021.05.004.

Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia

Menden B, Gutschalk A, Wunderlich G, Haack TB.

Mov Disord. 2022 May;37(5):1113-1115. doi: 10.1002/mds.29021.

Medical cannabis oil for benign essential blepharospasm: a prospective, randomized controlled pilot study

Zloto O, Weisman A, Avisar I, Serlin T, Bar-Lev L, Priel A, Landau Prat D, Granot N, Weisman I, Ben Simon G.

Graefes Arch Clin Exp Ophthalmol. 2022 May;260(5):1707-1712. doi: 10.1007/s00417-021-05533-1. Epub 2022 Jan 24.

A Novel COVID Era-Related Oromandibular Dyskinesia: Surgical Mask-Induced Dyskinesia?

Akhoundi FH, Lang AE, Ghazvinian S, Chitsaz A, Emamikhah M, Rohani M.

Can J Neurol Sci. 2022 May;49(3):470-471. doi: 10.1017/cjn.2021.139. Epub 2021 Jun 21.

Low-Intensity Transcranial Ultrasound Stimulation: Mechanisms of Action and Rationale for Future Applications in Movement Disorders

Guerra A, Bologna M.

Brain Sci. 2022 May 7;12(5):611. doi: 10.3390/brainsci12050611.

Brexpiprazole-Associated Pisa Syndrome (Pleurothotonus) in a Patient With Dementia

Nagai Y, Yamazaki T, Sugita T, Shibata N.

Clin Neuropharmacol. 2022 May-Jun 01;45(3):72-73. doi: 10.1097/WNF.0000000000000500. Epub 2022 Apr 14.

The barriers and facilitators to satisfaction with botulinum neurotoxin treatment in people with cervical dystonia: a systematic review

Boyce MJ, McCambridge AB, Bradnam LV, Canning CG, Verhagen AP.

Neurol Sci. 2022 May 20. doi: 10.1007/s10072-022-06114-8. Online ahead of print.

A history of oculogyric crises during the encephalitis lethargica pandemic

Walusinski O.

Rev Neurol (Paris). 2022 May 11:S0035-3787(22)00586-0. doi: 10.1016/j.neurol.2022.01.013. Online ahead of print.