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39 results

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Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E. Alstrup M, et al. Among authors: scalise r. Genet Med. 2024 Nov;26(11):101219. doi: 10.1016/j.gim.2024.101219. Epub 2024 Jul 18. Genet Med. 2024. PMID: 39033379
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
Klopstock T, Mercimek-Andrews S, Jurecka A, Wood P, Cwyl M, Klucken A, López A, Scalise R, Valle A, Mollet F, Perez-Duenas B, Skowronska M, Chroscinska-Krawczyk M, Escolar ML, Wade A, Rintell D. Klopstock T, et al. Among authors: scalise r. Orphanet J Rare Dis. 2023 Aug 31;18(1):257. doi: 10.1186/s13023-023-02869-1. Orphanet J Rare Dis. 2023. PMID: 37653408 Free PMC article.
Unilateral deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) for the treatment of post-traumatic tremor in children: a multicentre experience.
Peraio S, Mantovani G, Araceli T, Mongardi L, Noris A, Fino E, Formica F, Piccinini L, Melani F, Lenge M, Scalise R, Battini R, Di Rita A, D'Incerti L, Appleton T, Cavallo MA, Guerrini R, Giordano F. Peraio S, et al. Among authors: scalise r. Childs Nerv Syst. 2024 Aug;40(8):2457-2464. doi: 10.1007/s00381-024-06380-1. Epub 2024 Apr 4. Childs Nerv Syst. 2024. PMID: 38573550
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: scalise r. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
Ticci C, Orsucci D, Ardissone A, Bello L, Bertini E, Bonato I, Bruno C, Carelli V, Diodato D, Doccini S, Donati MA, Dosi C, Filosto M, Fiorillo C, La Morgia C, Lamperti C, Marchet S, Martinelli D, Minetti C, Moggio M, Mongini TE, Montano V, Moroni I, Musumeci O, Pancheri E, Pegoraro E, Primiano G, Procopio E, Rubegni A, Scalise R, Sciacco M, Servidei S, Siciliano G, Simoncini C, Tolomeo D, Tonin P, Toscano A, Tubili F, Mancuso M, Battini R, Santorelli FM. Ticci C, et al. Among authors: scalise r. J Clin Med. 2021 May 12;10(10):2063. doi: 10.3390/jcm10102063. J Clin Med. 2021. PMID: 34065803 Free PMC article.
39 results