Baschirotto C - Search Results

1

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A. Schiaffino MV, et al. Among authors: baschirotto c. Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9055-60. doi: 10.1073/pnas.93.17.9055. Proc Natl Acad Sci U S A. 1996. PMID: 8799153 Free PMC article.

2

Ocular albinism: evidence for a defect in an intracellular signal transduction system.

Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Schiaffino MV, et al. Among authors: baschirotto c. Nat Genet. 1999 Sep;23(1):108-12. doi: 10.1038/12715. Nat Genet. 1999. PMID: 10471510

3

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. d'Addio M, et al. Among authors: baschirotto c. Hum Mol Genet. 2000 Dec 12;9(20):3011-8. doi: 10.1093/hmg/9.20.3011. Hum Mol Genet. 2000. PMID: 11115845

4

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G. Bassi MT, et al. Among authors: baschirotto c. J Med Genet. 2004 Aug;41(8):621-8. doi: 10.1136/jmg.2003.017863. J Med Genet. 2004. PMID: 15286158 Free PMC article. No abstract available.

5

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

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT. Crimella C, et al. Among authors: baschirotto c. J Med Genet. 2010 Oct;47(10):712-6. doi: 10.1136/jmg.2010.077909. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685671

6

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.

Sztriha L, Panzeri C, Kálmánchey R, Szabó N, Endreffy E, Túri S, Baschirotto C, Bresolin N, Vekerdy Z, Bassi MT. Sztriha L, et al. Among authors: baschirotto c. Clin Genet. 2008 Jun;73(6):591-3. doi: 10.1111/j.1399-0004.2008.00993.x. Epub 2008 Apr 2. Clin Genet. 2008. PMID: 18394004 No abstract available.

7

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

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. Crimella C, et al. Among authors: baschirotto c. Clin Genet. 2012 Aug;82(2):157-64. doi: 10.1111/j.1399-0004.2011.01717.x. Epub 2011 Jun 21. Clin Genet. 2012. PMID: 21623771

8

Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.

Bersano A, Ranieri M, Ciammola A, Cinnante C, Lanfranconi S, Dotti MT, Candelise L, Baschirotto C, Ghione I, Ballabio E, Bresolin N, Bassi MT. Bersano A, et al. Among authors: baschirotto c. Funct Neurol. 2012 Oct-Dec;27(4):247-52. Funct Neurol. 2012. PMID: 23597439 Free PMC article.

9

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT. Borgatti R, et al. Among authors: baschirotto c. Neurology. 2004 Jul 13;63(1):57-65. doi: 10.1212/01.wnl.0000132979.08394.6d. Neurology. 2004. PMID: 15249611

10

Randomised controlled trial combining vitamin E-functionalised chocolate with physical exercise to reduce the risk of protein-energy malnutrition in predementia aged people: study protocol for Choko-Age.

Pedrinolla A, Isanejad M, Antognelli C, Bartolini D, Borras C, Cavedon V, Di Sante G, Migni A, Mas-Bargues C, Milanese C, Baschirotto C, Modena R, Pistilli A, Rende M, Schena F, Stabile AM, Telesa NV, Tortorella S, Hemmings K, Vina J, Wang E, McArdle A, Jackson MJ, Venturelli M, Galli F. Pedrinolla A, et al. Among authors: baschirotto c. BMJ Open. 2023 Dec 22;13(12):e072291. doi: 10.1136/bmjopen-2023-072291. BMJ Open. 2023. PMID: 38135320 Free PMC article.

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