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Cinzia Gellera

Explore the profile of Cinzia Gellera including associated specialties, affiliations and a list of published articles. Areas
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Articles 155
Citations 4317
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Recent Articles
1.
Filareto I, Mosca I, Freri E, Ragona F, Canafoglia L, Solazzi R, et al.
Front Cell Neurosci . 2025 Feb; 18:1512365. PMID: 39926415
Variants in genes encoding for voltage-gated K (Kv) channels are frequent cause of drug-resistant pediatric epilepsies. Obtaining a molecular diagnosis gives the opportunity to assess the efficacy of pharmacological strategies...
2.
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, et al.
Epilepsia Open . 2024 Dec; 10(1):348-354. PMID: 39718800
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic...
3.
Saez-Atienzar S, Souza C, Chia R, Beal S, Lorenzini I, Huang R, et al.
Cell Genom . 2024 Oct; 4(11):100679. PMID: 39437787
Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which...
4.
Castellotti B, Gellera C, Caputo D, Danti F, Messina G, Corbetta M, et al.
Mov Disord . 2024 Oct; 39(12):2300-2302. PMID: 39404500
No abstract available.
5.
Cozzi M, Magri S, Tedesco B, Patelli G, Ferrari V, Casarotto E, et al.
Cell Death Dis . 2024 Sep; 15(9):692. PMID: 39333504
Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key mutants covering...
6.
Castellotti B, Ragona F, Freri E, Messina G, Magri S, Previtali R, et al.
Epilepsia Open . 2024 Aug; 9(5):1922-1930. PMID: 39215763
Objective: The objective of this study is to report the results of the genetic analysis in a large and well-characterized population with pediatric-onset epilepsies and to identify those who could...
7.
Govoni A, Ricci G, Bonanno S, Bello L, Magri F, Meneri M, et al.
Muscle Nerve . 2024 Aug; 70(4):816-823. PMID: 39096012
Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA...
8.
Mosca I, Freri E, Ambrosino P, Belperio G, Granata T, Canafoglia L, et al.
Front Cell Neurosci . 2024 Apr; 18:1367838. PMID: 38644974
Variants in are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related...
9.
DiFrancesco J, Ragona F, Murano C, Frosio A, Melgari D, Binda A, et al.
Epilepsia . 2023 Sep; 64(12):e222-e228. PMID: 37746765
Missense variants of hyperpolarization-activated, cyclic nucleotide-gated (HCN) ion channels cause variable phenotypes, ranging from mild generalized epilepsy to developmental and epileptic encephalopathy (DEE). Although variants of HCN1 are an established...
10.
Ambrosino P, Ragona F, Mosca I, Vannicola C, Canafoglia L, Solazzi R, et al.
Epilepsia . 2023 May; 64(7):e148-e155. PMID: 37203213
Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1...