Works matching AU Battistini, Stefania
Results: 19
Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.
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- Human Mutation, 2020, v. 41, n. 5, p. 1069, doi. 10.1002/humu.24000
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- Article
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.
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- 2017
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- Publication type:
- Case Study
BDNF and Pro-BDNF in Amyotrophic Lateral Sclerosis: A New Perspective for Biomarkers of Neurodegeneration.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 5, p. 617, doi. 10.3390/brainsci12050617
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- Article
Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients.
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- NeuroMolecular Medicine, 2016, v. 18, n. 4, p. 551, doi. 10.1007/s12017-016-8396-8
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- Article
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients.
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- Journal of Neurochemistry, 2004, v. 90, n. 5, p. 1237, doi. 10.1111/j.1471-4159.2004.02588.x
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- Article
Molecular basis of late-life globoid cell leukodystrophy.
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- Human Mutation, 1999, v. 14, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6
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- Article
Effectiveness and tolerability of rimegepant in the acute treatment of migraine: a real-world, prospective, multicentric study (GAINER study).
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- Journal of Headache & Pain, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s10194-024-01935-8
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- Article
Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.
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- Cells (2073-4409), 2021, v. 10, n. 3, p. 704, doi. 10.3390/cells10030704
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- Article
MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis.
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- Cells (2073-4409), 2018, v. 7, n. 11, p. 219, doi. 10.3390/cells7110219
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- Article
A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.
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- Genes, 2021, v. 12, n. 10, p. 1544, doi. 10.3390/genes12101544
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- Article
Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC).
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- Molecular Biotechnology, 2013, v. 54, n. 3, p. 874, doi. 10.1007/s12033-012-9636-2
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- Article
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
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- Journal of Molecular Neuroscience, 2021, v. 71, n. 9, p. 1876, doi. 10.1007/s12031-021-01814-w
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- Article
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
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- 2019
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- Publication type:
- journal article
SOD1 mutations in amyotrophic lateral sclerosis.
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- Journal of Neurology, 2005, v. 252, n. 7, p. 782, doi. 10.1007/s00415-005-0742-y
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- Article
Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation.
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- 2019
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- Publication type:
- Report
Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation.
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- Journal of Molecular Neuroscience, 2010, v. 42, n. 2, p. 235, doi. 10.1007/s12031-010-9360-y
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- Publication type:
- Article
Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test.
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- Amino Acids, 2010, v. 38, n. 5, p. 1461, doi. 10.1007/s00726-009-0350-8
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- Article
CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology.
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- Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 6, p. 783, doi. 10.1515/CCLM.2009.161
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- Article
Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients.
- Published in:
- 2017
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- Publication type:
- journal article