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Quoted phrase not found in phrase index: "Dystonia with cerebellar atrophy"
Page 1
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP. Magrinelli F, et al. Mov Disord. 2022 Jan;37(1):148-161. doi: 10.1002/mds.28807. Epub 2021 Oct 8. Mov Disord. 2022. PMID: 34622992
Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cerebellar signs in 44.6% of cases. ...Brain magnetic resonance imaging findings included cerebral (49.3%) and/or cerebellar (43.2%) atrophy, but mineralization was evident i …
Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cerebellar signs in 44.6% of cases. ...Brain mag …
Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.
Chaudhry D, Chaudhry A, Muzaffar J, Monksfield P, Bance M. Chaudhry D, et al. J Int Adv Otol. 2020 Dec;16(3):411-431. doi: 10.5152/iao.2020.9035. J Int Adv Otol. 2020. PMID: 33136025 Free PMC article.
Of these, 4 studies focused on Charcot-Marie-Tooth disease (CMT), 3 on Brown-Vialetto-Van-Laere syndrome (BVVL), 2 on Friedreich Ataxia (FRDA), 2 on Syndromic dominant optic atrophy (DOA+), 2 on Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sens …
Of these, 4 studies focused on Charcot-Marie-Tooth disease (CMT), 3 on Brown-Vialetto-Van-Laere syndrome (BVVL), 2 on Friedreich Ataxia (FRD …
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.
Öz Yıldız S, Yalnızoğlu D, Şimsek Kiper PÖ, Göçmen R, Soğukpınar M, Utine GE, Haliloğlu G. Öz Yıldız S, et al. Neuropediatrics. 2024 Jun;55(3):156-165. doi: 10.1055/s-0044-1779618. Epub 2024 Feb 16. Neuropediatrics. 2024. PMID: 38365196 Free article. Review.
Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. ...ADPRHL2 variants should be considered in the context of episod …
Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar …