Aceruloplasminemia with a novel mutation associated with parkinsonism

Effect of Acidic Beverages on the Hardness, Elastic Modulus and Wear Resistance of Giomer and Nongiomer Bulk-fill Materials.

Operative dentistry·2023

The TriAGe+ Score for Vertigo or Dizziness: A Diagnostic Model for Stroke in the Emergency Department.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association·2017

Potent acid inhibition by vonoprazan in comparison with esomeprazole, with reference to CYP2C19 genotype.

Alimentary pharmacology & therapeutics·2016

Twice-daily dosing of esomeprazole effectively inhibits acid secretion in CYP2C19 rapid metabolisers compared with twice-daily omeprazole, rabeprazole or lansoprazole.

Alimentary pharmacology & therapeutics·2013

Non-genomic inhibitory effect of glucocorticoids on activated peripheral blood basophils through suppression of lipid raft formation.

Clinical and experimental immunology·2012

Rabeprazole 10 mg q.d.s. decreases 24-h intragastric acidity significantly more than rabeprazole 20 mg b.d. or 40 mg o.m., overcoming CYP2C19 genotype.

Alimentary pharmacology & therapeutics·2012

PMP22 gene diagnostic testing in Southwest Finland in 2005-2020. An observational, register-based study.

Neurogenetics·2026

Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants.

Neurogenetics·2026

Whole-exome sequencing in pediatric drug-resistant epilepsy: diagnostic yield and clinical impact in a resource-limited setting.

Neurogenetics·2026

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.

Neurogenetics·2026

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Neurogenetics·2026

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.

Neurogenetics·2026

Erratum: Association Between the Japanese Version of Montreal Cognitive Assessment Tasks and Driving as the Primary Mode of Transport Among Community-Dwelling Older Adults.

Canadian geriatrics journal : CGJ·2026

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

Journal of clinical and experimental hepatology·2026

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

HLA·2026

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Radiology case reports·2026

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Ophthalmic surgery, lasers & imaging retina·2025

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

Cureus·2025

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Aceruloplasminemia with a novel mutation associated with parkinsonism

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Effect of Acidic Beverages on the Hardness, Elastic Modulus and Wear Resistance of Giomer and Nongiomer Bulk-fill Materials.

The TriAGe+ Score for Vertigo or Dizziness: A Diagnostic Model for Stroke in the Emergency Department.

Potent acid inhibition by vonoprazan in comparison with esomeprazole, with reference to CYP2C19 genotype.

Twice-daily dosing of esomeprazole effectively inhibits acid secretion in CYP2C19 rapid metabolisers compared with twice-daily omeprazole, rabeprazole or lansoprazole.

Non-genomic inhibitory effect of glucocorticoids on activated peripheral blood basophils through suppression of lipid raft formation.

Rabeprazole 10 mg q.d.s. decreases 24-h intragastric acidity significantly more than rabeprazole 20 mg b.d. or 40 mg o.m., overcoming CYP2C19 genotype.

PMP22 gene diagnostic testing in Southwest Finland in 2005-2020. An observational, register-based study.

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The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.

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The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

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Aceruloplasminemia with a novel mutation associated with parkinsonism

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