Zobrazeno 1 - 10 of 21 pro vyhledávání: '"Alessandra Tonelli"'
1
A Case of Familial Hemiplegic Migraine Associated With a Novel ATP1A2 Gene Mutation
Autor: Marco Bensa, Angela De Cunto, Alessandra Tonelli
Publikováno v: Pediatric Neurology. 47:133-136
Hemiplegic migraine constitutes an unusual form, characterized by periodic attacks of migraine with a motor component (hemiplegia). Familial forms are dominantly inherited, and are attributable to mutations in genes encoding proteins involved in ion
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0996bb1fe7a62913505cab445052c477
https://doi.org/10.1016/j.pediatrneurol.2012.04.012
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2
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments
Autor: Antonio Musio, Maria Teresa Bassi, Linda Mannini, Silvia Zanotti, Alessandra Tonelli, Cinzia Magnani, Stefania Menga
Publikováno v: American Journal of Medical Genetics Part A. :224-228
Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbba89a0ebc0f4d13cc38855299eead5
https://doi.org/10.1002/ajmg.a.34384
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3
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2
Autor: Alessandra Tonelli, Alessia Arnoldi, Nereo Bresolin, C Baschirotto, M. T. Bassi, Andrea Martinuzzi, Elio Scarpini, G Spinicci, Luciana Losito, Antonio Trabacca, Sara Benedetti, Erika Tenderini, Claudia Crimella, Marina Scarlato, Giovanni Airoldi
Publikováno v: Clinical Genetics. 82:157-164
Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT. Mutations in the motor and stalk domains of KIF5A in spastic paraplegi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9044d1bcc0e5e624df2403a2a916524c
https://doi.org/10.1111/j.1399-0004.2011.01717.x
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4
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation
Autor: Claudio Zucca, Sara Bonato, Romina Romaniello, Renato Borgatti, Nereo Bresolin, Cinzia Baschirotto, Alessandra Tonelli, Andrea Righini, Nicoletta Zanotta, Maria Teresa Bassi, Roberta Epifanio
Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 81:840-843
Background Mutations in the calcium channel voltage dependent P/Q-type α-1A subunit ( CACNA1A ) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FH
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7076af275e1a03f3c0bd9093b289b12c
https://doi.org/10.1136/jnnp.2008.163402
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5
Novel splice-site mutations and a large intragenic deletion inPLA2G6associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy
Autor: Alessandra Tonelli, Anna Cavallini, M. T. Bassi, Renato Borgatti, Rita Grasso, Nereo Bresolin, Andrea Righini, Romina Romaniello
Publikováno v: Clinical Genetics. 78:432-440
Infantile neuroaxonal dystrophy, INAD, is a severe progressive psychomotor disorder with infantile onset and characterized by the presence of axonal spheroids throughout the central and peripheral nervous systems. A subset of INAD patients shows also
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d503be5ee880ee517953d5795f9060e8
https://doi.org/10.1111/j.1399-0004.2010.01417.x
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7
A novelCLN8mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function
Autor: Michela Morbin, Nereo Bresolin, Sara Bondioni, Francesca Redaelli, Roberto Giorda, Chiara Vantaggiato, Cristiana Perrotta, Maria Teresa Bassi, Veronica Saletti, Maria Clara Bonaglia, Daria Riva, Emilio Clementi, Alessandra Tonelli, Sestina Falcone
Publikováno v: Human Mutation. 30:1104-1116
The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7a04ec2aaec949a126e81a45bfa32a
https://doi.org/10.1002/humu.21012
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9
A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures
Autor: Veronica Cardin, Alessandra Tonelli, A. Gallanti, Gennaro Bussone, Nereo Bresolin, Maria Teresa Bassi
Publikováno v: Journal of the Neurological Sciences. 273:123-126
Familial hemiplegic migraine (FHM) is a severe dominant form of migraine with aura associated with transient hemiparesis. Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7275d9788d1776515c2b6f203608d671
https://doi.org/10.1016/j.jns.2008.06.006
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10
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene
Autor: Alessandra Tonelli, Tiziano Frattini, Laura Villa, Chiara Germinasi, Maria Teresa Bassi, Maria Grazia D'Angelo, Anna Carla Turconi, Nereo Bresolin, Giovanni Meola, Roberto Salati
Publikováno v: Journal of the Neurological Sciences. 241:13-17
Mutations in the brain-specific P/Q type Ca2+ channel α1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine type 1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5075269037659d4a78972e13d60b677
https://doi.org/10.1016/j.jns.2005.10.007
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