Genetics and infectious disease: convergence at the prion

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Journal of neuropathology and experimental neurology·2022

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.

Neurogenetics·2016

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

BMC neurology·2015

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Neuromuscular disorders : NMD·2014

Myofibrillar myopathies: new developments.

Current opinion in neurology·2013

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

BMC neurology·2013

The Role of Assignment in Defining and Identifying Causal Effects in Randomized Trials.

Epidemiology (Cambridge, Mass.)·2026

Development and validation of a vacant lot care condition instrument for longitudinal evaluation of place-based interventions.

Epidemiology (Cambridge, Mass.)·2026

Air Pollution Exposure in Infancy and Incidence of Atopic Dermatitis in Preschool-Aged Children.

Epidemiology (Cambridge, Mass.)·2026

Smart Meter-derived Air Conditioning Penetration Rate Modifies the Association Between Ambient Temperature and Emergency Department Visits.

Epidemiology (Cambridge, Mass.)·2026

Pooled Multinomial Logistic Regression for Parametric G-computation in the Presence of Competing Events.

Epidemiology (Cambridge, Mass.)·2026

Generalizing Findings in Nested Cohorts.

Epidemiology (Cambridge, Mass.)·2026

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Neuroscience·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

International journal of molecular sciences·2026

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

International journal of molecular sciences·2026

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

Cells·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Related Experiment Videos

Genetics and infectious disease: convergence at the prion

Related Concept Videos

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Myofibrillar myopathies: new developments.

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

The Role of Assignment in Defining and Identifying Causal Effects in Randomized Trials.

Development and validation of a vacant lot care condition instrument for longitudinal evaluation of place-based interventions.

Air Pollution Exposure in Infancy and Incidence of Atopic Dermatitis in Preschool-Aged Children.

Smart Meter-derived Air Conditioning Penetration Rate Modifies the Association Between Ambient Temperature and Emergency Department Visits.

Pooled Multinomial Logistic Regression for Parametric G-computation in the Presence of Competing Events.

Generalizing Findings in Nested Cohorts.

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Related Experiment Videos

Genetics and infectious disease: convergence at the prion

Related Concept Videos

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