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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

223 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR, Fateh ST, Ben-Mahmoud A, Gupta V, Stühn LG, Lesca G, Chatron N, Platzer K, Edery P, Sadeghi H, Isidor B, Cogné B, Schulz HL, Krauspe-Stübecke I, Periyasamy R, Nampoothiri S, Mirfakhraie R, Alijanpour S, Syrbe S, Pfeifer U, Spranger S, Grundmann-Hauser K, Haack TB, Papadopoulou MT, da Silva Gonçalves T, Panagiotakaki E, Arzimanoglou A, Tonekaboni SH, Rossi M, Korenke GC, Lacassie Y, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: arzimanoglou a. Am J Med Genet A. 2024 Dec 20:e63963. doi: 10.1002/ajmg.a.63963. Online ahead of print. Am J Med Genet A. 2024. PMID: 39707601
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.
Moya Quiros V, Adham A, Convers P, Lesca G, Mauguiere F, Soulier H, Arzimanoglou A, Bayat A, Braakman H, Camdessanche JP, Casenave P, Chaton L, Chaix Y, Chochoi M, Depienne C, Desportes V, De Ridder J, Dinkelacker V, Gardella E, Kluger GJ, Jung J, Lemesle Martin M, Mancardi MM, Mueller M, Poulat AL, Platzer K, Roubertie A, Stokman MF, Vulto-van Silfhout AT, Wiegand G, Mazzola L. Moya Quiros V, et al. Among authors: arzimanoglou a. Ann Neurol. 2024 Aug 23;97(1):34-50. doi: 10.1002/ana.27063. Online ahead of print. Ann Neurol. 2024. PMID: 39177219 Free PMC article.
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium; Arzimanoglou A. Panagiotakaki E, et al. Among authors: arzimanoglou a. Brain. 2010 Dec;133(Pt 12):3598-610. doi: 10.1093/brain/awq295. Epub 2010 Oct 24. Brain. 2010. PMID: 20974617
The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.
Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross JH, Jozwiak S, Wilmshurst JM, Vigevano F, Auvin S, Nabbout R, Curatolo P. Specchio N, et al. Among authors: arzimanoglou a. Lancet Child Adolesc Health. 2024 Nov;8(11):821-834. doi: 10.1016/S2352-4642(24)00196-2. Lancet Child Adolesc Health. 2024. PMID: 39419567 Review.
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons C, Trivisano M, Kabulashvili T, Specchio N, Lesca G, Arzimanoglou A. Papadopoulou MT, et al. Among authors: arzimanoglou a. Epilepsia Open. 2024 Jun;9(3):996-1006. doi: 10.1002/epi4.12930. Epub 2024 Mar 22. Epilepsia Open. 2024. PMID: 38517305 Free PMC article.
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
Amin S, Møller RS, Aledo-Serrano A, Arzimanoglou A, Bager P, Jóźwiak S, Kluger GJ, López-Cabeza S, Nabbout R, Partridge CA, Schubert-Bast S, Specchio N, Kälviäinen R. Amin S, et al. Among authors: arzimanoglou a. Epilepsia Open. 2024 Jun;9(3):832-849. doi: 10.1002/epi4.12914. Epub 2024 Mar 7. Epilepsia Open. 2024. PMID: 38450883 Free PMC article. Review.
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.
Sanders MW, Van der Wolf I, Jansen FE, Aronica E, Helmstaedter C, Racz A, Surges R, Grote A, Becker AJ, Rheims S, Catenoix H, Duncan JS, De Tisi J, Jacques TS, Cross JH, Kalviainen R, Rauramaa T, Chassoux F, Devaux BC, Di Gennaro G, Esposito V, Bodi I, Honavar M, Bien CG, Cloppenborg T, Coras R, Hamer HM, Marusic P, Kalina A, Pieper T, Kudernatsch M, Hartlieb TS, Von Oertzen TJ, Aichholzer M, Dorfmuller G, Chipaux M, Noachtar S, Kaufmann E, Schulze-Bonhage A, Scheiwe CF, Özkara C, Grunwald T, Koenig K, Guerrini R, Barba C, Buccoliero AM, Giordano F, Rosenow F, Menzler K, Garbelli R, Deleo F, Krsek P, Straka B, Arzimanoglou AA, Toulouse J, Van Paesschen W, Theys T, Pimentel J, Loução De Amorim IM, Specchio N, De Palma L, Feucht M, Scholl T, Roessler K, Toledano Delgado R, Gil-Nagel A, Raicevic S, Ristic AJ, Schijns O, Beckervordersandforth J, San Antonio-Arce V, Rumia J, Blumcke I, Braun KP; as the European Epilepsy Brain Bank Consortium (EEBB). Sanders MW, et al. Among authors: arzimanoglou aa. Neurology. 2024 Feb 27;102(4):e208007. doi: 10.1212/WNL.0000000000208007. Epub 2024 Jan 30. Neurology. 2024. PMID: 38290094 Free PMC article.
223 results