Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

383 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU; SYNAPS Study Group; Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, Houlden H. Aughey G, et al. Among authors: severino m. medRxiv [Preprint]. 2024 May 5:2024.05.03.24306631. doi: 10.1101/2024.05.03.24306631. medRxiv. 2024. PMID: 38746364 Free PMC article. Preprint.
Vein of Galen aneurysmal malformation: does size affect outcome?
Parodi C, Aluffi Valletti M, Tortora D, Buratti S, Mallamaci M, Tuo G, Pistorio A, Moscatelli A, Rossi A, Severino M; I. G. G. VGAM Team. Parodi C, et al. Among authors: severino m. Neuroradiology. 2024 Apr 12. doi: 10.1007/s00234-024-03347-6. Online ahead of print. Neuroradiology. 2024. PMID: 38607438
Whipple Disease Presenting as Isolated Transverse Myelitis with Permanent Neurological Damage in a Patient with Systemic Lupus Erythematosus: A Case Report of a Difficult Diagnosis with a Literature Review.
Saffioti C, Nebiolo M, Caorsi R, Mesini A, Severino M, Brisca G, Castagnola E, Gattorno M. Saffioti C, et al. Among authors: severino m. Infect Dis Rep. 2024 Mar 19;16(2):269-280. doi: 10.3390/idr16020022. Infect Dis Rep. 2024. PMID: 38525769 Free PMC article.
A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.
Chen J, Ngo A, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Alvim MKM, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp B, Domin M, von Podewils F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Sinclair B, Vivash L, Kwan P, Desmond PM, Lui E, Duma GM, Bonanni P, Ballerini A, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Rüber T, Bauer T, Weber B, Caldairou B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Pardoe H, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Arienzo D, Vos SB, Ryten M, Taylor PN, Duncan JS, Whelan CD, Galovic M, Winston GP, Thomopoulos SI, Thompson PM, Sisodiya SM, Labate A, McDonald CR, Caciagli L, Bernasconi N, Bernasconi A, Larivière S, Schrader D, Bernhardt BC. Chen J, et al. Among authors: severino m. bioRxiv [Preprint]. 2024 Mar 6:2024.03.02.583073. doi: 10.1101/2024.03.02.583073. bioRxiv. 2024. PMID: 38496668 Free PMC article. Preprint.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: severino m. Brain. 2024 Mar 8:awae056. doi: 10.1093/brain/awae056. Online ahead of print. Brain. 2024. PMID: 38456468 Free article.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH. Kerestes R, et al. Among authors: severino m. Epilepsia. 2024 Apr;65(4):1072-1091. doi: 10.1111/epi.17881. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38411286 Free article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: severino m. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
383 results