Molecular genetics of demyelination: new wrinkles on an old membrane

Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.

Journal of the peripheral nervous system : JPNS·2024

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Journal of neurology, neurosurgery, and psychiatry·2014

CMT1X phenotypes represent loss of GJB1 gene function.

Neurology·2007

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

Neurology·2003

Differential cyclin D1 requirements of proliferating Schwann cells during development and after injury.

Molecular and cellular neurosciences·2001

Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells.

Molecular and cellular neurosciences·2001

Loss of interruption in the HTT CAG repeat is associated with somatic expansion and loss of medium spiny neurons in Huntington's disease.

Neuron·2026

Amygdalostriatal transition zone neurons encode sustained cue responses to guide defensive behaviors.

Neuron·2026

A hypothalamic-vagal pathway mediates stress-induced feeding suppression and gastric dysfunction.

Neuron·2026

Cell-type-specific disruption of nucleus accumbens social representations in a mouse model of autism.

Neuron·2026

Voltage imaging: A practical guide.

Neuron·2026

Neural geometry in the human hippocampus enables generalization across spatial position and gaze.

Neuron·2026

A Post-NGP Mitsuokella jalaludinii as a Therapeutic Candidate for Gout.

MicrobiologyOpen·2026

Insights into the mechanism of action of the bipartite fusion module of SARS-CoV-2 spike protein.

Journal of virology·2026

Engineered Exosomes for Oral Administration: Breaking Gastrointestinal Barriers for Disease Therapy.

Journal of drug targeting·2026

Molecular basis of tRNA substrate recognition and modification by the atypical SPOUT methyltransferase Trm10.

Nucleic acids research·2026

Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy.

Circulation·2026

Artificial Intelligence in Predicting Systemic Complications From Retinal Findings: A New Frontier in Precision Medicine.

Cureus·2026

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Molecular genetics of demyelination: new wrinkles on an old membrane

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Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

CMT1X phenotypes represent loss of GJB1 gene function.

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

Differential cyclin D1 requirements of proliferating Schwann cells during development and after injury.

Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells.

Loss of interruption in the HTT CAG repeat is associated with somatic expansion and loss of medium spiny neurons in Huntington's disease.

Amygdalostriatal transition zone neurons encode sustained cue responses to guide defensive behaviors.

A hypothalamic-vagal pathway mediates stress-induced feeding suppression and gastric dysfunction.

Cell-type-specific disruption of nucleus accumbens social representations in a mouse model of autism.

Voltage imaging: A practical guide.

Neural geometry in the human hippocampus enables generalization across spatial position and gaze.

A Post-NGP Mitsuokella jalaludinii as a Therapeutic Candidate for Gout.

Insights into the mechanism of action of the bipartite fusion module of SARS-CoV-2 spike protein.

Engineered Exosomes for Oral Administration: Breaking Gastrointestinal Barriers for Disease Therapy.

Molecular basis of tRNA substrate recognition and modification by the atypical SPOUT methyltransferase Trm10.

Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy.

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Molecular genetics of demyelination: new wrinkles on an old membrane

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