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Acta neurologica Scandinavica·2018

Human NDE1 splicing and mammalian brain development.

Scientific reports·2017

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Clinical genetics·2017

Identification of XLRS1 gene mutation (608C>T) in a Portuguese family with juvenile retinoschisis.

European journal of ophthalmology·2017

Integrin signalling regulates the expansion of neuroepithelial progenitors and neurogenesis via Wnt7a and Decorin.

Nature communications·2016

Comparative effectiveness of inebilizumab versus conventional immunotherapies in AQP4-IgG-positive NMOSD: a prospective cohort study with time-varying treatment effects.

Journal of neurology, neurosurgery, and psychiatry·2026

Age and treatment class modify inflammatory risk after disease-modifying therapy discontinuation in older people with MS.

Journal of neurology, neurosurgery, and psychiatry·2026

MRI activity in pre-symptomatic multiple sclerosis: the role of paramagnetic rim lesions beyond the 2024 McDonald diagnostic criteria.

Journal of neurology, neurosurgery, and psychiatry·2026

Prevalence, clinical characteristics and treatment response of tremor in chronic inflammatory demyelinating polyneuropathy.

Journal of neurology, neurosurgery, and psychiatry·2026

Whole-body quantitative muscle MRI in myotonic dystrophy type 2: a sensitive tool for pattern recognition, disease stratification and objective assessment of clinical severity.

Journal of neurology, neurosurgery, and psychiatry·2026

Presymptomatic plasma biomarkers in autosomal dominant Alzheimer's disease: sequence and timing.

Journal of neurology, neurosurgery, and psychiatry·2026

Development and validation of a higher-throughput, automated FAMA assay for varicella-zoster virus antibody detection, offering a scalable alternative to the classic 12-well slide method.

Microbiology spectrum·2026

Prospective reflectance confocal microscopy monitoring in dupilumab-treated atopic dermatitis.

Journal of the European Academy of Dermatology and Venereology : JEADV·2026

'I'm a figment of your imagination': epistemic injustice as generative of microinvalidations, microinsults and microassaults directed at bisexual men.

Culture, health & sexuality·2026

Development and clinical validation of a colorimetric isothermal assay for rapid detection of monkeypox virus.

New microbes and new infections·2026

Activatable 19F NMR probes from drug scaffolds for assessing myeloperoxidase-associated inflammation.

Chemical science·2026

Update and optimization of a multiplex RT-qPCR assay to overcome diagnostic failure in emerging influenza A(H3N2) subclades J.2 and K (Peru, 2024-2026).

IJID regions·2026

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Myoclonic movement disorder associated with microdeletion of chromosome 22q11

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