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Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters

Molecular cell, 2018-02, Vol.69 (3), p.426-437.e7

2018

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Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

Annals of neurology, 2020-04, Vol.87 (4), p.547-555

2020

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Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

Human mutation, 2015-01, Vol.36 (1), p.48-56

2015

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TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

Case reports in neurology, 2017-08, Vol.9 (2), p.216-221

2017

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De novo REEP2 missense mutation in pure hereditary spastic paraplegia

Annals of clinical and translational neurology, 2017-05, Vol.4 (5), p.347-350

2017

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Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease

Brain (London, England : 1878), 2022-06, Vol.145 (6), p.2077-2091

2022

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A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

Journal of genetic counseling, 2013-08, Vol.22 (4), p.422-436

2013

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α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease

Movement disorders, 2021-10, Vol.36 (10), p.2346-2357

2021

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Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

Neurology, 2019-06, Vol.92 (23), p.1113-1115

2019

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Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

Neurology, 2020-05, Vol.94 (21), p.944-944

2020

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Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

Muscle & nerve, 2018-01, Vol.57 (1), p.40-44

2018

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Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Muscle & nerve, 2018-05, Vol.57 (5), p.749-755

2018

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Laing distal myopathy pathologically resembling inclusion body myositis

Annals of clinical and translational neurology, 2014-12, Vol.1 (12), p.1053-1058

2014

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Annals of clinical and translational neurology, 2014-06, Vol.1 (6), p.379-389

2014

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Multigeneration family with dominant SPG30 hereditary spastic paraplegia

Annals of clinical and translational neurology, 2017-11, Vol.4 (11), p.821-824

2017

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Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Neuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.978-981

2014

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Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

Journal of clinical neuroscience, 2014-09, Vol.21 (9), p.1627-1631

2014

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SCA8 should not be tested in isolation for ataxia

Neurology. Genetics, 2017-06, Vol.3 (3), p.e150-e150

2017

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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Journal of neurology, 2015-04, Vol.262 (4), p.1066-1068

2015

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Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

Annals of clinical and translational neurology, 2016-08, Vol.3 (8), p.650-654

2016

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Nucleocytoplasmic transport defect in a North American patient with ALS8

Annals of clinical and translational neurology, 2018-03, Vol.5 (3), p.369-375

2018

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A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

Annals of clinical and translational neurology, 2017-04, Vol.4 (4), p.272-275

2017

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Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters

Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease

A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Laing distal myopathy pathologically resembling inclusion body myositis

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa

SCA8 should not be tested in isolation for ataxia

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

Nucleocytoplasmic transport defect in a North American patient with ALS8

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

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