Výsledky vyhledávání - "Claudia Crimella"

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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Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

Autor: Chiara Vantaggiato, Maria Teresa Bassi, Erika Brighina, Giovanni Airoldi, Sara Bonato, Emilio Clementi, Andrea Ballabio, Olimpia Musumeci, Andrea Martinuzzi, Antonio Toscano, Claudia Crimella, Filippo M. Santorelli, Roman S. Polishchuk, Marina Scarlato, Nereo Bresolin

Publikováno v: Brain

Hereditary spastic paraparesis type 15 is a recessive complicated form of the disease clinically characterized by slowly progressive spastic paraparesis and mental deterioration with onset between the first and second decade of life. Thinning of corp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b3a93753ff42624881854a50d17efc
https://europepmc.org/articles/PMC3784282/

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Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

Autor: Alessia Arnoldi, Marianna Fantin, Claudia Crimella, Andrea Martinuzzi, Marina Scarlato, Antonio Toscano, Nereo Bresolin, M. T. Bassi, Erika Tenderini, Maria Grazia D'Angelo, Olimpia Musumeci

Spastic paraplegia type 5 (SPG5) is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-α-hydroxylase, CYP7B1, an enzyme implicated in the cholesterol metabolism. Mutations in CYP7B1 were found in both pure and complicate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02974d6074e9069fd6333394c3d12b79
http://hdl.handle.net/11570/1945068

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A novel nonsense mutation in the APTX gene associated with delayed DNA single‐strand break removal fails to enhance sensitivity to different genotoxic agents

Autor: Genny Orso, Chiara Vantaggiato, Nereo Bresolin, Mara Fiorani, Catia Azzolini, Claudia Crimella, Maria Teresa Bassi, Andrea Martinuzzi, Andrea Guidarelli, Orazio Cantoni

Publikováno v: Human Mutation. 32

APTX is the gene involved in ataxia with oculomotor apraxia type 1 (AOA1), a recessive disorder with early-onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. The encoded protein, aprataxin, is a DNA repair protein processing the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8fa3fa5e63b8273abde486b1667acd6
https://doi.org/10.1002/humu.21464

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A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

Autor: Marina Grandis, Anna Mazzeo, Claudia Crimella, Maria Teresa Bassi, Andrea Martinuzzi, Antonio Toscano, Olimpia Musumeci

Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f137ee8d309e6fa32047eae49059d218
http://hdl.handle.net/11570/1945066

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The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K

Autor: Luciana Losito, C Baschirotto, Nereo Bresolin, Giovanni Airoldi, Sara Bonato, Maria Grazia D'Angelo, Antonio Trabacca, Alessandra Tonelli, M. T. Bassi, Claudia Crimella

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (10), pp.712. ⟨10.1136/jmg.2010.077909⟩

International audience; Background: Mutations in GDAP1 associate with both demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive inheritance, CMT2K can present with either recessive (AR-CMT2K) or dominant segregation patt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3fbd1172633cb38bda008d1e1a357b1
https://hal.archives-ouvertes.fr/hal-00557397

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Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin

Autor: Clara De Palma, Chiara Vantaggiato, Maria Teresa Bassi, Orazio Cantoni, Andrea Guidarelli, Giovanni Airoldi, Alessandra Tonelli, Nereo Bresolin, Chris Panzeri, Maria Grazia D'Angelo, Sara Bonato, Sara Bondioni, Claudia Crimella, Emilio Clementi, Sestina Falcone

Publikováno v: Neurogenetics. 11(1)

Ataxia with oculomotor apraxia (AOA) type 2 (AOA2 MIM 606002) is a recessive subtype of AOA characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy. Various mutations either in homozygous or compound

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e69763e4cbf3ee7613e10ebe61a1a2d
https://pubmed.ncbi.nlm.nih.gov/19593598

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