Hereditary motor and sensory neuropathy

Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.

Genes, brain, and behavior·2017

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications.

Journal of genetic counseling·2013

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Neurology·2009

Late-onset hereditary axonal neuropathies.

Neurology·2008

Neural transplantation in Huntington disease: long-term grafts in two patients.

Neurology·2007

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

Brain : a journal of neurology·2007

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Journal of medical genetics·2026

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Journal of medical genetics·2026

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Journal of medical genetics·2026

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Journal of medical genetics·2026

Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026

Functional connectivity predictors and mechanisms of symptom change in functional neurological disorder.

Brain communications·2026

Bioinformed idiographic symptom networks to identify neurobiological predictors of affective-state transitions in bipolar disorder.

Imaging neuroscience (Cambridge, Mass.)·2026

Real-time approach to evaluate spinal cord topography of motor pool activation during gait.

Frontiers in bioengineering and biotechnology·2026

Measurements and management of multiple sclerosis-related fatigue: an umbrella review and meta-analysis.

Disability and rehabilitation·2026

Impaired NADH-linked mitochondrial respiration disrupts ventral midbrain neuronal programs in POLG disease.

Journal of translational medicine·2026

The social construction of the "good doctor": Expectations of physicians among adults with NF1.

Journal of community genetics·2026

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Hereditary motor and sensory neuropathy

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Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications.

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Late-onset hereditary axonal neuropathies.

Neural transplantation in Huntington disease: long-term grafts in two patients.

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Functional connectivity predictors and mechanisms of symptom change in functional neurological disorder.

Bioinformed idiographic symptom networks to identify neurobiological predictors of affective-state transitions in bipolar disorder.

Real-time approach to evaluate spinal cord topography of motor pool activation during gait.

Measurements and management of multiple sclerosis-related fatigue: an umbrella review and meta-analysis.

Impaired NADH-linked mitochondrial respiration disrupts ventral midbrain neuronal programs in POLG disease.

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Hereditary motor and sensory neuropathy

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