Christina Brahe
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Explore the profile of Christina Brahe including associated specialties, affiliations and a list of published articles.
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14
Citations
343
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Recent Articles
1.
Tiziano F, Neri G, Brahe C
Int J Mol Sci
. 2011 Feb;
12(1):24-38.
PMID: 21339974
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I-III)....
2.
Tiziano F, Lomastro R, Pinto A, Messina S, DAmico A, Fiori S, et al.
J Med Genet
. 2010 Sep;
47(12):856-8.
PMID: 20837492
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the SMN1 gene. Based on severity, three forms of SMA are recognised (types I-III). All patients usually...
3.
Chiaretti A, Leoni C, Barone G, Genovese O, Brahe C, Mariotti P, et al.
Pediatr Neurol
. 2009 Aug;
41(3):195-9.
PMID: 19664536
The cause of motor neuron death in spinal muscular atrophy is still debated. In experimental animal models, neurotrophic factors have great potency in supporting motor neuron survival and differentiation, but...
4.
Tiziano F, Pinto A, Fiori S, Lomastro R, Messina S, Bruno C, et al.
Eur J Hum Genet
. 2009 Jul;
18(1):52-8.
PMID: 19603064
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Three forms of SMA are recognized (type I-III) on the basis of...
5.
Bizzarro A, Seripa D, Acciarri A, Matera M, Pilotto A, Tiziano F, et al.
Eur J Hum Genet
. 2009 Jan;
17(7):938-45.
PMID: 19172988
The single nucleotide polymorphisms (SNPs) rs449647, rs769446 and rs405509 in the promoter region of the APOE gene have been variously suggested to be epsilon 4-independent risk factors for Alzheimer's disease...
6.
Bussu F, Tiziano F, Giorgio A, Pinto A, De Corso E, Angelozzi C, et al.
Am J Rhinol
. 2007 Jul;
21(3):378-82.
PMID: 17621827
Background: Nasal polyposis is probably a multifactorial disease, but so far, no genetic susceptibility factor has been identified. The observed associations between the ADRB2 argl6gly polymorphism and asthma-related phenotypes as...
7.
Trecarichi E, Tumbarello M, de Gaetano Donati K, Tamburrini E, Cauda R, Brahe C, et al.
AIDS Res Ther
. 2006 Sep;
3:22.
PMID: 16999868
Despite multiple sexual exposure to HIV-1 virus, some individuals remain HIV-1 seronegative (exposed seronegative, ESN). The mechanisms underlying this resistance remain still unclear, although a multifactorial pathogenesis can be hypothesised....
8.
Giannini A, Pinto A, Rossetti G, Prandi E, Tiziano D, Brahe C, et al.
Intensive Care Med
. 2006 Sep;
32(11):1851-5.
PMID: 16964485
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in...
9.
Acciarri A, Masullo C, Bizzarro A, Valenza A, Quaranta D, Marra C, et al.
Ann Neurol
. 2006 Jan;
59(2):436-7.
PMID: 16437577
No abstract available.
10.
Brahe C, Vitali T, Tiziano F, Angelozzi C, Pinto A, Borgo F, et al.
Eur J Hum Genet
. 2004 Nov;
13(2):256-9.
PMID: 15523494
Spinal muscular atrophy (SMA) is caused by insufficient levels of survival motor neuron (SMN) protein. Recently, we found that sodium 4-phenylbutyrate (PB), a well-tolerated FDA approved drug, enhances SMN gene...