A clinical diagnostic algorithm for early onset cerebellar ataxia

Autor: Sara Nuovo, Ginevra Zanni, Dana Craiu, Nina Barišić, Rajesh Kumar, J. Gburek, R. Brandsma, I.F.M. de Coo, V. Brankovic-Sreckovic, Bwee Tien Poll-The, Corien C. Verschuuren-Bemelmans, Enrico Bertini, Lubov Blumkin, Coriene E. Catsman-Berrevoets, Michèl A.A.P. Willemsen, Hubertus P. H. Kremer, Gessica Vasco, Colin R. Kennedy, Enza Maria Valente, Alfons Macaya, Oebele F. Brouwer, Maja Steinlin, M. Mirabelli-Badenier, Andrea H. Németh, Eugen Boltshauser, T. J. de Koning, D. Amrom, Tally Lerman-Sagie, Marina A. J. Tijssen, Katrin Bürk, Deborah A Sival, Matthis Synofzik, Alessia Micalizzi, Peter Baxter

Publikováno v: European Journal of Paediatric Neurology, 23, 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. W.B. Saunders
European journal of paediatric neurology : EJPN, 23(5), 692-706. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 23(5), 692-706. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 23, 54, pp. 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. ELSEVIER SCI LTD
European journal of paediatric neurology 23(5), 692-706 (2019). doi:10.1016/j.ejpn.2019.08.004

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7e086c367a7dfacf1d697f1d96ed0c
http://hdl.handle.net/11573/1540246

Author response: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Autor: Trey Ideker, Isabella Moroni, Colin A. Johnson, Pedro Aza-Blanc, Renato Borgatti, Stefano D'Arrigo, Keith K. Vaux, Enza Maria Valente, Susanne Heynen-Genel, Elide Miccinilli, Sehyun Kim, Petter Strømme, Joanne Milisa-Drautz, Matan Hofree, Franco Stanzial, Rose-Mary Boustany, Jennifer L. Silhavy, Carol L. Clericuzio, Eugen Boltshauser, Maja Steinlin, Enrico Bertini, Tommaso Mazza, Brian David Dynlacht, Stacey Gabriel, Susanne Roosing, Brett Copeland, Mohamed A Mikati, Romina Romaniello, Rasim Ozgur Rosti, Eric Scott, Jana Schroth, Kathryn J. Swoboda, Michael Freilinger, William B. Dobyns, Matloob Azam, Friedhelm Hildebrandt, Francesco Emma, Joon Kim, Jieun Lee, Marta Romani, M. Mirabelli-Badenier, Maha S. Zaki, Joseph G. Gleeson, Faruk Incecik

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef3162743bcda8497599079af2ef203c
https://doi.org/10.7554/elife.06602.021

P247 Anti-N-methyl-D-aspartate-receptor (NMDAR) encephalitis in a 4-year-old girl

Autor: Gaia Giribaldi, Sarosh R. Irani, Andrea Rossi, M. Mirabelli Badenier, Edvige Veneselli, Angela Vincent, Maria Giuseppina Baglietto, R. Biancheri, A. Pessagno

Publikováno v: European Journal of Paediatric Neurology. 13:S98

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2babf2c4c4ef62057ac36b0f0608f1b0
https://doi.org/10.1016/s1090-3798(09)70305-8

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