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Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Biochimica et biophysica acta, 2015-04, Vol.1852 (4), p.667-678

2015

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A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle

The EMBO journal, 2022-03, Vol.41 (5), p.e108899-n/a

2022

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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

Case reports in medicine, 2022-05, Vol.2022, p.7492077-3

2022

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A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States

Muscle & nerve, 2015-12, Vol.52 (6), p.1110-1113

2015

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Two Cases of Periodic Paralysis Associated With MCM3AP Variants

Journal of clinical neuromuscular disease, 2023-09, Vol.25 (1), p.36-41

2023

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Expanding the clinical spectrum of CLCN1 mutations (P13-13.008)

Neurology, 2022-05, Vol.98 (18_supplement)

Jerath, Nivedita

2022

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Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation

Muscle & nerve, 2017-12, Vol.56 (6), p.1092-1095

2017

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Atypical Periodic Paralysis Presentations (4423)

Neurology, 2021-04, Vol.96 (15_supplement)

Jerath, Nivedita

2021

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Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score

Journal of clinical neurophysiology, 2017-11, Vol.34 (6), p.508-511

2017

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Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings

Muscle & nerve, 2016-10, Vol.54 (4), p.728-732

2016

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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

Journal of neurology, neurosurgery and psychiatry, 2017-07, Vol.88 (7), p.575-585

2017

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Epidural spinal cord stimulation: A novel therapy in the treatment of restless legs syndrome

World neurosurgery, 2016-08, Vol.92, p.582.e15-582.e18

2016

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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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Options in treating trigeminal neuralgia: Experience with 195 patients

Clinical neurology and neurosurgery, 2016-10, Vol.149, p.166-170

2016

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Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

Muscle & nerve, 2015-11, Vol.52 (5), p.905-908

2015

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Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

Case reports in genetics, 2019-10, Vol.2019 (2019), p.1-7

2019

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Survey of the functional priorities in patients with disability due to neuromuscular disorders

Disability and rehabilitation: Assistive technology, 2019-02, Vol.14 (2), p.133-137

2019

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V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I

Case reports in genetics, 2018, Vol.2018 (2018), p.1-3

2018

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T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

Case reports in genetics, 2018, Vol.2018 (2018), p.1-7

2018

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Teaching NeuroImages: intraneural ganglion cyst of the tibial nerve

Neurology, 2014-05, Vol.82 (20), p.e174

2014

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Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage

Journal of clinical neuroscience, 2016-07, Vol.29, p.203-205

2016

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F wave, A wave, H reflex, and blink reflex

Handbook of Clinical Neurology, 2019, Vol.160, p.225-239

2019

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Gender Differences in Presenting Signs and Symptoms of Acute Ischemic Stroke: A Population-Based Study

Gender medicine, 2011-10, Vol.8 (5), p.312-319

2011

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CMT X in Women: Electrodiagnostic Findings (S42.003)

Neurology, 2015-04, Vol.84 (14_supplement)

Jerath, Nivedita

2015

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Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q)

Journal of neuromuscular diseases, 2018, Vol.5 (1), p.99-104

2018

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Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle

Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States

Two Cases of Periodic Paralysis Associated With MCM3AP Variants

Expanding the clinical spectrum of CLCN1 mutations (P13-13.008)

Charcot–Marie–Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation

Atypical Periodic Paralysis Presentations (4423)

Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score

Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

Epidural spinal cord stimulation: A novel therapy in the treatment of restless legs syndrome

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

Options in treating trigeminal neuralgia: Experience with 195 patients

Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

Survey of the functional priorities in patients with disability due to neuromuscular disorders

V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

Teaching NeuroImages: intraneural ganglion cyst of the tibial nerve

Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage

F wave, A wave, H reflex, and blink reflex

Gender Differences in Presenting Signs and Symptoms of Acute Ischemic Stroke: A Population-Based Study

CMT X in Women: Electrodiagnostic Findings (S42.003)

Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q)

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