A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

Peak width of skeletonized mean diffusivity (PSMD) and cognitive functions in relapsing-remitting multiple sclerosis.

Brain imaging and behavior·2020

Crowding, Entropic Forces, and Confinement: Crucial Factors for Structures and Functions in the Cell Nucleus.

Biochemistry. Biokhimiia·2018

Assessing cognitive functioning in ALS: A focus on frontal lobe processes.

Amyotrophic lateral sclerosis & frontotemporal degeneration·2016

Role of Whole-Body MR with DWIBS in child's Bartonellosis.

La Clinica terapeutica·2016

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

Molecular psychiatry·2015

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

Current molecular medicine·2014

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics·2026

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Medicine·2026

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Stem cell research·2026

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

CNS neuroscience & therapeutics·2026

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

International journal of molecular sciences·2026

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Genes·2026

Related Experiment Videos

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

Related Concept Videos

Peak width of skeletonized mean diffusivity (PSMD) and cognitive functions in relapsing-remitting multiple sclerosis.

Crowding, Entropic Forces, and Confinement: Crucial Factors for Structures and Functions in the Cell Nucleus.

Assessing cognitive functioning in ALS: A focus on frontal lobe processes.

Role of Whole-Body MR with DWIBS in child's Bartonellosis.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

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Related Experiment Videos

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

Related Concept Videos

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