Definition of the smallest pathological CAG expansion in SCA7

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

European journal of neurology·2018

Aerobic exercise upregulates the BDNF-Serotonin systems and improves the cognitive function in rats.

Neurobiology of learning and memory·2018

Lifelong Aerobic Exercise Reduces the Stress Response in Rats.

Neuroscience·2018

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Clinical genetics·2017

Direct effects of ethanol on neuronal differentiation: An in vitro analysis of viability and morphology.

Brain research bulletin·2016

Aerobic exercise prevents age-dependent cognitive decline and reduces anxiety-related behaviors in middle-aged and old rats.

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Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

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Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Shoulder deformation without neurological injuries: A rare visible sequela after positional torture.

Torture : quarterly journal on rehabilitation of torture victims and prevention of torture·2026

Idiopathic Calcinosis Cutis Universalis in a Child.

Cureus·2026

Simultaneous Visualization of NEAT1_2 and Paraspeckle Proteins by Sequential RNA-FISH and Immunofluorescence.

Methods in molecular biology (Clifton, N.J.)·2026

Evaluation of in vivo subject-specific mechanical behavior of lamina cribrosa in subjects with and without glaucoma.

Computer methods in biomechanics and biomedical engineering·2026

Nuclear Quantum Effects Reshape Structural Signatures of Supercooled Water near the Liquid-Liquid Critical Region.

The journal of physical chemistry. B·2026

Novel non-contrast computed tomography parameters for predicting spontaneous stone passage and surgical requirement in ureteral stones: The role of ureteral wall thickness and dilatation ratio.

Urolithiasis·2026

Related Experiment Videos

Definition of the smallest pathological CAG expansion in SCA7

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Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Aerobic exercise upregulates the BDNF-Serotonin systems and improves the cognitive function in rats.

Lifelong Aerobic Exercise Reduces the Stress Response in Rats.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

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Definition of the smallest pathological CAG expansion in SCA7

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