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93 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
SLK is mutated in individuals with a neurodevelopmental disorder.
Alabdi L, Altuwaijri N, Zhu JY, Efthymiou S, Lee H, Duan J, Salem I, Yu P, Abdullah NL, Alzahrani F, Xu Q, Felemban MM, Alfaifi A, Rahman F, Christoforou M, Maqbool S, Martinez-Agosto JA, Alsaif HS, Hashem M, Helaby R, Alsulaiman A; SYNaPS Study Group; Queen Square Genomics; Maroofian R, Houlden H, Arold ST, Ibrahim LA, Han Z, Alkuraya FS. Alabdi L, et al. EBioMedicine. 2025 Jun;116:105725. doi: 10.1016/j.ebiom.2025.105725. Epub 2025 May 9. EBioMedicine. 2025. PMID: 40347834 Free PMC article.
Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.
Olszewska DA, Shetty A, Rajalingam R, Rodriguez-Antiguedad J, Hamed M, Huang J, Breza M, Rasheed A, Bahr N, Madoev H, Westenberger A, Trinh J, Lohmann K, Klein C, Marras C, Waln O. Olszewska DA, et al. Among authors: breza m. Eur J Neurol. 2023 Oct;30(10):3377-3393. doi: 10.1111/ene.15969. Epub 2023 Jul 17. Eur J Neurol. 2023. PMID: 37422902
Current advances in the management of cluster headaches.
Mavridis T, Breza M, Deligianni C, Mitsikostas DD. Mavridis T, et al. Among authors: breza m. Expert Opin Pharmacother. 2021 Oct;22(14):1931-1943. doi: 10.1080/14656566.2021.1924148. Epub 2021 May 14. Expert Opin Pharmacother. 2021. PMID: 33989098
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V, Breza M, Szaruga M, Vandrovcova J, Murphy D, Lee CJ, Alikhwan S, Bourinaris T, Vavougios G, Ilyas M, Halim SA, Al-Harrasi A, Kartanou C, Ronald C, Blumcke I, Alexoudi A, Gatzonis S, Stefanis L, Karadima G, Wood NW, Chávez-Gutiérrez L, Hardy J, Houlden H, Koutsis G. Chelban V, et al. Among authors: breza m. Alzheimers Dement (Amst). 2021 May 2;13(1):e12186. doi: 10.1002/dad2.12186. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 33969176 Free PMC article.
HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
Kontogeorgiou Z, Voudommatis C, Kartanou C, Pandis D, Breza M, Zambelis T, Stefanis L, Panas M, Koutsis G, Karadima G. Kontogeorgiou Z, et al. Among authors: breza m. J Peripher Nerv Syst. 2021 Dec;26(4):444-448. doi: 10.1111/jns.12473. Epub 2021 Oct 29. J Peripher Nerv Syst. 2021. PMID: 34694653
Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
Kasselimis D, Karadima G, Angelopoulou G, Breza M, Tsolakopoulos D, Potagas C, Panas M, Koutsis G. Kasselimis D, et al. Among authors: breza m. J Int Neuropsychol Soc. 2020 Mar;26(3):294-302. doi: 10.1017/S1355617719001188. Epub 2020 Jan 17. J Int Neuropsychol Soc. 2020. PMID: 31948496
93 results