Found: 37
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Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1466720
- By:
- Publication type:
- Article
A novel homozygous mutation in TBK1 gene causing ALS-FTD.
- Published in:
- 2022
- By:
- Publication type:
- Letter
A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient.
- Published in:
- 2019
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- Publication type:
- Case Study
Tryptamine levels are low in plasma of chronic migraine and chronic tension-type headache.
- Published in:
- Neurological Sciences, 2014, v. 35, n. 12, p. 1941, doi. 10.1007/s10072-014-1867-5
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- Publication type:
- Article
Is migraine a risk factor for the occurrence of eating disorders? Prevalence and biochemical evidences.
- Published in:
- 2012
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- Publication type:
- journal article
Is migraine a risk factor for the occurrence of eating disorders? Prevalence and biochemical evidences.
- Published in:
- Neurological Sciences, 2012, v. 33, p. 71, doi. 10.1007/s10072-012-1045-6
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- Publication type:
- Article
Migraine with aura: conventional and non-conventional treatments.
- Published in:
- 2011
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- Publication type:
- journal article
Migraine with aura: conventional and non-conventional treatments.
- Published in:
- Neurological Sciences, 2011, v. 32, p. 121, doi. 10.1007/s10072-011-0529-0
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- Publication type:
- Article
Migraine prevalence in eating disorders and pathophysiological correlations.
- Published in:
- Neurological Sciences, 2009, v. 30, p. 55, doi. 10.1007/s10072-009-0070-6
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- Publication type:
- Article
Study of tyrosine metabolism in eating disorders. Possible correlation with migraine.
- Published in:
- Neurological Sciences, 2008, v. 29, p. 88, doi. 10.1007/s10072-008-0895-4
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- Publication type:
- Article
Hepatic expression of endocannabinoid receptors and their novel polymorphisms in primary biliary cirrhosis.
- Published in:
- Journal of Gastroenterology, 2010, v. 45, n. 1, p. 68, doi. 10.1007/s00535-009-0122-y
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- Publication type:
- Article
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 167, doi. 10.1159/000535057
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- Publication type:
- Article
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
- Published in:
- Human Genetics, 2021, v. 140, n. 9, p. 1299, doi. 10.1007/s00439-021-02300-4
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- Publication type:
- Article
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
- Published in:
- Australasian Journal of Dermatology, 2023, v. 64, n. 4, p. 576, doi. 10.1111/ajd.14143
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- Publication type:
- Article
The role of tyrosine metabolism in the pathogenesis of chronic migraine.
- Published in:
- Cephalalgia, 2013, v. 33, n. 11, p. 932, doi. 10.1177/0333102413480755
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- Publication type:
- Article
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2377, doi. 10.1002/ajmg.a.61773
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- Publication type:
- Article
Selective modulation of Ab42 by calcium channel antagonists. Relevance of calcium dynamics
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Transcriptional Profiling in the Lumbar Spinal Cord of a Mouse Model of Amyotrophic Lateral Sclerosis: A Role for Wild-Type Superoxide Dismutase 1 in Sporadic Disease?
- Published in:
- Journal of Molecular Neuroscience, 2010, v. 41, n. 3, p. 404, doi. 10.1007/s12031-010-9332-2
- By:
- Publication type:
- Article
Erratum to: Transcriptional Profiling in the Lumbar Spinal Cord of a Mouse Model of Amyotrophic Lateral Sclerosis: A Role for Wild-Type Superoxide Dismutase 1 in Sporadic Disease?
- Published in:
- 2010
- By:
- Publication type:
- Correction Notice
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 25, doi. 10.1002/jmd2.12125
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- Publication type:
- Article
A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.
- Published in:
- Molecular Medicine Reports, 2020, v. 22, n. 6, p. 4561, doi. 10.3892/mmr.2020.11574
- By:
- Publication type:
- Article
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 8, p. e164, doi. 10.1111/epi.17557
- By:
- Publication type:
- Article
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
- Published in:
- Biomedical Reports, 2017, v. 7, n. 5, p. 451, doi. 10.3892/br.2017.987
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- Publication type:
- Article
Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis.
- Published in:
- Biomedical Reports, 2017, v. 7, n. 3, p. 241, doi. 10.3892/br.2017.954
- By:
- Publication type:
- Article
Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.
- Published in:
- Molecular Medicine Reports, 2016, v. 13, n. 3, p. 2308, doi. 10.3892/mmr.2016.4784
- By:
- Publication type:
- Article
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.
- Published in:
- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0617-y
- By:
- Publication type:
- Article
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 1921, doi. 10.1007/s00415-023-12142-x
- By:
- Publication type:
- Article
Thymidylate synthetase allelic imbalance in clear cell renal carcinoma.
- Published in:
- Cancer Chemotherapy & Pharmacology, 2009, v. 64, n. 6, p. 1195, doi. 10.1007/s00280-009-0986-9
- By:
- Publication type:
- Article
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85399-9
- By:
- Publication type:
- Article
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 1, p. 65, doi. 10.1093/hmg/ddab015
- By:
- Publication type:
- Article
Combined effects of genetic and non-genetic risk factors affect response to ranibizumab in exudative age-related macular degeneration.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 6, p. e451, doi. 10.1111/aos.12587
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- Publication type:
- Article
Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1466720
- By:
- Publication type:
- Article
Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.
- Published in:
- Genes, 2023, v. 14, n. 5, p. 1080, doi. 10.3390/genes14051080
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- Publication type:
- Article
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1130, doi. 10.3390/genes13071130
- By:
- Publication type:
- Article
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9676, doi. 10.3390/ijms25179676
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- Publication type:
- Article
Expanding the spectrum of SPTLC1‐related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 308, doi. 10.1111/jns.12394
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- Publication type:
- Article