Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia

How do Patients and Managers Value Gold Standard Elements in Primary Health Care.

Journal of patient experience·2024

Coastal warming under climate change: Global, faster and heterogeneous.

The Science of the total environment·2023

Axonal pathology in early stages of Guillain-Barré syndrome.

Neurologia·2022

Effects of residential greenness on attention in a longitudinal study at 8 and 11-13 years.

Environmental research·2022

PI3K inhibition by BKM120 results in anti-proliferative effects on corticotroph tumor cells.

Journal of endocrinological investigation·2022

Bacteria and virulence factors in periapical lesions associated with teeth following primary and secondary root canal treatment.

International endodontic journal·2020

Risk of early stroke recurrence and procedural stroke or death in carotid near occlusion patients scheduled for carotid endarterectomy.

Journal of neurology·2026

Tenecteplase, alteplase, and endovascular thrombectomy in extended-window acute ischemic stroke with intracranial large-vessel occlusion: a Bayesian network meta-analysis.

Journal of neurology·2026

Antiviral and inflammatory immune signatures in anti-CD20-treated multiple sclerosis: a cross-sectional study.

Journal of neurology·2026

Clinical phenotype and treatment response in AQP4-IgG-positive NMOSD and MOGAD: insights from the Italian I-MS&RD registry.

Journal of neurology·2026

Retinal layer thickness as a potential marker for future cardiovascular events - a UK Biobank cohort study using optical coherence tomography.

Journal of neurology·2026

Hemi-see-saw nystagmus with superimposed pendular oculopalatal tremor: case report and systematic review.

Journal of neurology·2026

Adamantinoma-like Ewing Sarcoma: An Underrecognized Mimicker in the Head and Neck With Divergent Clinicopathologic Features from Ewing Sarcoma.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc·2026

Corrigendum to "Novel 360° lumbar arthroplasty: Surgical technique and procedural details" [North American Spine Society Journal (NASSJ) 25 (2026) 100863].

North American Spine Society journal·2026

Rare posterior wall acetabular fracture extending to iliac crest managed via extended iliofemoral approach: A case report.

Trauma case reports·2026

Concurrent RUNX1::MECOM and RUNX1::PRDM16 Fusions from a Novel Genomic Breakpoint: First Report of a Dual-Fusion Mechanism in Acute Myeloid Leukemia.

OncoTargets and therapy·2026

Identification of the Novel HLA-DQB1*02:281 Allele by Third-Generation Sequencing.

HLA·2026

Characterisation of the Novel HLA-DRB3*02:251 Allele by Sequencing-Based Typing.

HLA·2026

Related Experiment Videos

Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia

Related Concept Videos

How do Patients and Managers Value Gold Standard Elements in Primary Health Care.

Coastal warming under climate change: Global, faster and heterogeneous.

Axonal pathology in early stages of Guillain-Barré syndrome.

Effects of residential greenness on attention in a longitudinal study at 8 and 11-13 years.

PI3K inhibition by BKM120 results in anti-proliferative effects on corticotroph tumor cells.

Bacteria and virulence factors in periapical lesions associated with teeth following primary and secondary root canal treatment.

Risk of early stroke recurrence and procedural stroke or death in carotid near occlusion patients scheduled for carotid endarterectomy.

Tenecteplase, alteplase, and endovascular thrombectomy in extended-window acute ischemic stroke with intracranial large-vessel occlusion: a Bayesian network meta-analysis.

Antiviral and inflammatory immune signatures in anti-CD20-treated multiple sclerosis: a cross-sectional study.

Clinical phenotype and treatment response in AQP4-IgG-positive NMOSD and MOGAD: insights from the Italian I-MS&RD registry.

Retinal layer thickness as a potential marker for future cardiovascular events - a UK Biobank cohort study using optical coherence tomography.

Hemi-see-saw nystagmus with superimposed pendular oculopalatal tremor: case report and systematic review.

Adamantinoma-like Ewing Sarcoma: An Underrecognized Mimicker in the Head and Neck With Divergent Clinicopathologic Features from Ewing Sarcoma.

Corrigendum to "Novel 360° lumbar arthroplasty: Surgical technique and procedural details" [North American Spine Society Journal (NASSJ) 25 (2026) 100863].

Rare posterior wall acetabular fracture extending to iliac crest managed via extended iliofemoral approach: A case report.

Concurrent RUNX1::MECOM and RUNX1::PRDM16 Fusions from a Novel Genomic Breakpoint: First Report of a Dual-Fusion Mechanism in Acute Myeloid Leukemia.

Identification of the Novel HLA-DQB1*02:281 Allele by Third-Generation Sequencing.

Characterisation of the Novel HLA-DRB3*02:251 Allele by Sequencing-Based Typing.

Related Experiment Videos

Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia

Related Concept Videos

Related Articles