Bassi MT - Search Results

1

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: bassi mt. 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

2

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: bassi mt. Hum Mol Genet. 2000 Dec 12;9(20):3011-8. doi: 10.1093/hmg/9.20.3011. Hum Mol Genet. 2000. PMID: 11115845

3

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A. Dalpozzo F, et al. Among authors: bassi mt. Neurology. 2003 Aug 26;61(4):580-1. doi: 10.1212/01.wnl.0000078189.73611.df. Neurology. 2003. PMID: 12939451 No abstract available.

4

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: bassi mt. Neurology. 2004 Jul 13;63(1):57-65. doi: 10.1212/01.wnl.0000132979.08394.6d. Neurology. 2004. PMID: 15249611

5

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. 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.

6

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).

Bassi MT, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri MV, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M. Bassi MT, et al. Neurogenetics. 2005 Dec;6(4):185-93. doi: 10.1007/s10048-005-0012-2. Epub 2005 Oct 19. Neurogenetics. 2005. PMID: 16235065 Free article.

7

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

Tonelli A, D'Angelo MG, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi AC, Bresolin N, Bassi MT. Tonelli A, et al. Among authors: bassi mt. J Neurol Sci. 2006 Feb 15;241(1-2):13-7. doi: 10.1016/j.jns.2005.10.007. Epub 2005 Dec 2. J Neurol Sci. 2006. PMID: 16325861

8

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.

Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT. Panzeri C, et al. Among authors: bassi mt. Brain. 2006 Jul;129(Pt 7):1710-9. doi: 10.1093/brain/awl104. Epub 2006 May 2. Brain. 2006. PMID: 16670179

9

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Crippa F, et al. Among authors: bassi mt. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546

10

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.

Tonelli A, Gallanti A, Bersano A, Cardin V, Ballabio E, Airoldi G, Redaelli F, Candelise L, Bresolin N, Bassi MT. Tonelli A, et al. Among authors: bassi mt. Clin Genet. 2007 Dec;72(6):517-23. doi: 10.1111/j.1399-0004.2007.00892.x. Epub 2007 Sep 18. Clin Genet. 2007. PMID: 17877748

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