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55 results
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Page 1
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Pelletier F, et al. Among authors: la piana r. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
COVID-19 and disease-modifying therapies in patients with demyelinating diseases of the central nervous system: A systematic review.
Sharifian-Dorche M, Sahraian MA, Fadda G, Osherov M, Sharifian-Dorche A, Karaminia M, Saveriano AW, La Piana R, Antel JP, Giacomini PS. Sharifian-Dorche M, et al. Among authors: la piana r. Mult Scler Relat Disord. 2021 May;50:102800. doi: 10.1016/j.msard.2021.102800. Epub 2021 Jan 29. Mult Scler Relat Disord. 2021. PMID: 33578206 Free PMC article.
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.
Huang YT, Giacomini PS, Massie R, Venkateswaran S, Trudelle AM, Fadda G, Sharifian-Dorche M, Boudjani H, Poliquin-Lasnier L, Airas L, Saveriano AW, Ziller MG, Miller E, Martinez-Rios C, Wilson N, Davila J, Rush C, Longbrake EE, Longoni G, Macaron G, Bernard G, Tampieri D, Antel J, Brais B, La Piana R. Huang YT, et al. Among authors: la piana r. Front Neurol. 2022 Jul 25;13:928493. doi: 10.3389/fneur.2022.928493. eCollection 2022. Front Neurol. 2022. PMID: 35959404 Free PMC article.
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Cheung A, Argyriou C, Yergeau C, D'Souza Y, Riou É, Lévesque S, Raymond G, Daba M, Rtskhiladze I, Tkemaladze T, Adang L, La Piana R, Bernard G, Braverman N. Cheung A, et al. Among authors: la piana r. Neurogenetics. 2022 Apr;23(2):115-127. doi: 10.1007/s10048-022-00684-7. Epub 2022 Feb 2. Neurogenetics. 2022. PMID: 35106698
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period.
Longo S, Caporali C, Pisoni C, Borghesi A, Perotti G, Tritto G, Olivieri I, La Piana R, Tonduti D, Decio A, Ariaudo G, Spairani S, Naboni C, Gardella B, Spinillo A, Manzoni F, Tinelli C, Stronati M, Orcesi S. Longo S, et al. Among authors: la piana r. Sci Rep. 2021 Aug 11;11(1):16316. doi: 10.1038/s41598-021-95864-0. Sci Rep. 2021. PMID: 34381139 Free PMC article.
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings.
De Giorgis V, Varesio C, Viri M, Giordano L, La Piana R, Tonduti D, Roncarolo F, Masnada S, Pichiecchio A, Veggiotti P, Fazzi E, Orcesi S; Italian AGS Study Group. De Giorgis V, et al. Among authors: la piana r. Seizure. 2021 Mar;86:197-209. doi: 10.1016/j.seizure.2020.11.019. Epub 2020 Dec 1. Seizure. 2021. PMID: 33589296 Free article.
55 results