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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H; Undiagnosed Diseases Network; Kooy RF, Weckhuysen S. Smal N, et al. Among authors: gana s. Eur J Hum Genet. 2024 Jul 4. doi: 10.1038/s41431-024-01661-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38965372
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Reilly MM. Cortese A, et al. Among authors: gana s. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17. J Neurol Neurosurg Psychiatry. 2020. PMID: 32943585 Free PMC article. No abstract available.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: gana s. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C, Gana S, Asaro A, Ballante E, Cabini RF, Tartara E, Bagnaschi M, Pasca L, Valente M, Orcesi S, Cereda C, Veggiotti P, Borgatti R, Valente EM, De Giorgis V. Varesio C, et al. Among authors: gana s. Diagnostics (Basel). 2021 May 25;11(6):948. doi: 10.3390/diagnostics11060948. Diagnostics (Basel). 2021. PMID: 34070668 Free PMC article.
68 results