Alpha 2.0
Login Register
» Authors » C Baschirotto

C Baschirotto

Explore the profile of C Baschirotto including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 11
Citations 368
Followers 0
Related Specialties
Genetics
Neurology
Pediatrics
Top 10 Co-Authors
M T Bassi
N Bresolin
R Giorda
A Ballabio
M De Luca
A Tonelli
M V Schiaffino
C Crimella
C Marino
M dAddio
Published In
J Med Genet
Clin Genet
Proc Natl Acad Sci U S A
Eur Child Adolesc Psychiatry
Nat Genet
Affiliations
Soon will be listed here.
Recent Articles
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, et al.
Clin Genet . 2011 Jun; 82(2):157-64. PMID: 21623771
Spastic paraplegia type 10 (SPG10) is an autosomal dominant form of hereditary spastic paraplegia (HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy chain implicated in...
2.
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, DAngelo M, Bonato S, et al.
J Med Genet . 2010 Aug; 47(10):712-6. PMID: 20685671
Background: Mutations in GDAP1 associate with demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive inheritance, CMT2K can present with either recessive (AR-CMT2K) or dominant segregation pattern...
3.
First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement
Sztriha L, Panzeri C, Kalmanchey R, Szabo N, Endreffy E, Turi S, et al.
Clin Genet . 2008 Apr; 73(6):591-3. PMID: 18394004
No abstract available.
4.
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
Bassi M, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, et al.
J Med Genet . 2004 Aug; 41(8):621-8. PMID: 15286158
No abstract available.
5.
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, et al.
Neurology . 2004 Jul; 63(1):57-65. PMID: 15249611
Background: Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in two genes, KCNQ2 and KCNQ3, encoding for potassium channel subunits underlying the M-current. This...
6.
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
Giorda R, Cerritello A, Bonaglia M, Bova S, Lanzi G, Repetti E, et al.
J Med Genet . 2004 Jun; 41(6):e71. PMID: 15173237
No abstract available.
7.
A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population
Marino C, Giorda R, Vanzin L, Nobile M, Lorusso M, Baschirotto C, et al.
J Med Genet . 2004 Jan; 41(1):42-6. PMID: 14729831
No abstract available.
8.
No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes
Marino C, Giorda R, Vanzin L, Molteni M, Lorusso M, Nobile M, et al.
Eur Child Adolesc Psychiatry . 2003 Sep; 12(4):198-202. PMID: 14505070
Dopamine genes are candidate genes for dyslexia in the light of the well-known comorbidity between dyslexia and ADHD. Within-family association and linkage disequilibrium were tested between four genetic markers at...
9.
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
dAddio M, Pizzigoni A, Bassi M, Baschirotto C, Valetti C, Incerti B, et al.
Hum Mol Genet . 2000 Dec; 9(20):3011-8. PMID: 11115845
Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by a severe reduction of visual acuity, hypopigmentation of the retina and the presence of macromelanosomes in the skin...
10.
Ocular albinism: evidence for a defect in an intracellular signal transduction system
Schiaffino M, dAddio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al.
Nat Genet . 1999 Sep; 23(1):108-12. PMID: 10471510
G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G proteins in the internal membranes suggests that a...