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View article: Unverricht-Lundborg Disease: Tackling the Challenges of a Complex Clinical Picture
Unverricht-Lundborg Disease: Tackling the Challenges of a Complex Clinical Picture Open
Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is characterized by stimulus-induced myoclonus and seizures without major progressive cognitive deficit, usually presenting during late childhood and e…
View article: Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel Open
Dominant KCNQ1 variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous KCNQ1 missense variants, R116L and P369L, cause an allelic disorder characterized by pituitary hormone deficiency and maternally inher…
View article: Progressive Generalized Dystonia‐Parkinsonism in a Child with Fumaric Aciduria
Progressive Generalized Dystonia‐Parkinsonism in a Child with Fumaric Aciduria Open
Inherited Metabolic Disorders (IMD) can present with different movement disorders, from infancy to adulthood. Movements can range from subtle to be the main feature of the disease. Fumaric aciduria (FA) is a rare IMD resulting from a defic…
View article: Mitochondrial and redox modifications in early stages of Huntington’s disease
Mitochondrial and redox modifications in early stages of Huntington’s disease Open
Defects in mitochondrial function and mitochondrial-related redox deregulation have been attributed to Huntington’s disease (HD), a genetic neurodegenerative disorder largely affecting the striatum. However, whether these changes occur in …
View article: A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement
A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement Open
A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2…
View article: A whole brain longitudinal study in the YAC128 mouse model of Huntington’s disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes
A whole brain longitudinal study in the YAC128 mouse model of Huntington’s disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes Open
Huntington's disease (HD) is a neurodegenerative disorder causing cognitive and motor impairments, evolving to death within 15-20 years after symptom onset. We previously established a mouse model with the entire human HD gene containing 1…