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Page 1
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Among authors: garavaglia b. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340 Free article.
Adult diagnosis of Cockayne syndrome.
Cocco A, Calandrella D, Carecchio M, Garavaglia B, Albanese A. Cocco A, et al. Among authors: garavaglia b. Neurology. 2019 Nov 5;93(19):854-855. doi: 10.1212/WNL.0000000000008449. Neurology. 2019. PMID: 31685704 No abstract available.
Unraveling Autonomic Dysfunction in GBA-Related Parkinson's Disease.
Devigili G, Straccia G, Cereda E, Garavaglia B, Fedeli A, Elia AE, Piacentini SHMJ, Prioni S, Amami P, Invernizzi F, Andreasi NG, Romito LM, Eleopra R, Cilia R. Devigili G, et al. Among authors: garavaglia b. Mov Disord Clin Pract. 2023 Oct 13;10(11):1620-1638. doi: 10.1002/mdc3.13892. eCollection 2023 Nov. Mov Disord Clin Pract. 2023. PMID: 38026514 Free PMC article.
Clinical quiz. Secondary carnitine deficiency due to celiac disease.
Fitzgerald JF, Troncone R, Roggero P, Pozzi E, Garavaglia B, Parini R, Carissimi E, Santus F, Piemontese P, Cataliotti E, Mosca F, Carnelli V. Fitzgerald JF, et al. Among authors: garavaglia b. J Pediatr Gastroenterol Nutr. 2003 May;36(5):636, 646. doi: 10.1097/00005176-200305000-00008. J Pediatr Gastroenterol Nutr. 2003. PMID: 12774794 No abstract available.
CLN6-related continuum phenotype caused by aberrant splicing.
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L. Invernizzi F, et al. Among authors: garavaglia b. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. Epilepsia Open. 2024. PMID: 39718800 Free article.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
237 results