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Jerath, Nivedita, MD, MS
Publications
Most Recent Publications
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2022EXPANDING THE CLINICAL SPECTRUM: TTN MUTATIONS ASSOCIATED WITH NEUROPATHY AND NEUROPATHIC PAIN. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. S60-S61.
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2022A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. EMBO JOURNAL.Full Text via DOI: 10.15252/embj.2021108899 PMID: 35132656
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2022Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.. CASE REPORTS IN MEDICINE. 7492077.Full Text via DOI: 10.1155/2022/7492077 PMID: 35656516
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2021Severe back pain and burning pain all over can be seen in atypical presentations of hereditary neuropathy with liability to pressure palsy. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 361-362.
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2021Atypical Periodic Paralysis Presentations. NEUROLOGY.
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2020CMT 1E associated with a novel point mutation in the PMP22 gene, Exon 3, c.84G > T (p.Trp28Cys) and NCV in the range of 12 m/s.. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 549-549.
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2020CMT X associated with three novel point mutations of the GJB1 gene, c.118G > A (p.Ala40Thr), c.72G > T (p. Trp24Cys), and c.793C > T (p.Arg265Cys). JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 513-514.
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2020Two unrelated individuals with pathogenic GDAP 1 mutations c.811G > A (p.gly271arg) and GDAP1 c.358C > T (p. Arg120Trp) presenting with a mild CMT 2 K. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 514-514.
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2020Dorsal Root Ganglion Stimulation as a Potentially Effective Treatment for Painful Hereditary and Idiopathic Axonal Polyneuropathy: A Retrospective Case Series. NEUROMODULATION. 23:234-238.Full Text via DOI: 10.1111/ner.12924 PMID: 30762923
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2019F wave, A wave, H reflex, and blink reflex. CLINICAL NEUROPHYSIOLOGY: BASIS AND TECHNICAL ASPECTS. 160:225-239.Full Text via DOI: 10.1016/B978-0-444-64032-1.00015-1 PMID: 31277850
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2019Late onset CMT2A in a Family with an MFN2 Variant: c.2222T > G (p.Leu741Trp). JOURNAL OF NEUROMUSCULAR DISEASES. 6:259-261.Full Text via DOI: 10.3233/JND-190384 PMID: 31127728
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2019Survey of the functional priorities in patients with disability due to neuromuscular disorders. DISABILITY AND REHABILITATION-ASSISTIVE TECHNOLOGY. 14:133-137.Full Text via DOI: 10.1080/17483107.2017.1413143 PMID: 29216771
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2019['Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His', 'Mutation.']. Case reports in genetics. 2403024.Full Text via DOI: 10.1155/2019/2403024 PMID: 31687228
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2018Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. MUSCLE & NERVE. 57:749-755.Full Text via DOI: 10.1002/mus.25981 PMID: 28981955
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2018Asymmetric 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. 99-104.Full Text via DOI: 10.3233/JND-170229 PMID: 29278894
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2018T118M 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. 2618071.Full Text via DOI: 10.1155/2018/2618071 PMID: 30675404
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2018['V144D Mutation of', 'Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.']. Case reports in genetics. 1898151.Full Text via DOI: 10.1155/2018/1898151 PMID: 30420926
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2017Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G > a (p.Gly112Ser) Litaf/Simple mutation. MUSCLE & NERVE. 56:1092-1095.Full Text via DOI: 10.1002/mus.25600 PMID: 28164329
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2017Charcot-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. 34:508-511.Full Text via DOI: 10.1097/WNP.0000000000000415 PMID: 28914656
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2017Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 88:575-585.Full Text via DOI: 10.1136/jnnp-2016-315077 PMID: 28501821
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2016CHARCOT-MARIE-TOOTH DISEASE TYPE 1X IN WOMEN: ELECTRODIAGNOSTIC FINDINGS. MUSCLE & NERVE. 54:728-732.Full Text via DOI: 10.1002/mus.25077 PMID: 26873881
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2016Options in treating trigeminal neuralgia: Experience with 195 patients. CLINICAL NEUROLOGY AND NEUROSURGERY. 149:166-170.Full Text via DOI: 10.1016/j.clineuro.2016.08.016 PMID: 27556293
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2016Epidural Spinal Cord Stimulation: A Novel Therapy in the Treatment of Restless Legs Syndrome. WORLD NEUROSURGERY. 92.Full Text via DOI: 10.1016/j.wneu.2016.05.077 PMID: 27268311
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2016Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage. JOURNAL OF CLINICAL NEUROSCIENCE. 29:203-205.Full Text via DOI: 10.1016/j.jocn.2015.12.017 PMID: 26896372
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2016Prolongation of F-wave minimal latency: a sensitive predictor of polyneuropathy. INTERNATIONAL JOURNAL OF NEUROSCIENCE. 126:520-525.PMID: 26000925
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2015A CASE OF NEUROMYOTONIA AND AXONAL MOTOR NEUROPATHY: A REPORT OF A HINT1 MUTATION IN THE UNITED STATES. MUSCLE & NERVE. 52:1110-1113.Full Text via DOI: 10.1002/mus.24774 PMID: 26182879
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2015Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion. MUSCLE & NERVE. 52:905-908.Full Text via DOI: 10.1002/mus.24713 PMID: 26012543
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2015Quantitative Imaging Analysis of FDG PET/CT Imaging for Detection of Central Neurolymphomatosis in a Case of Recurrent Diffuse B-Cell Lymphoma. CUREUS. 7.Full Text via DOI: 10.7759/cureus.379 PMID: 26719822
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2015Diagnostic Yield of FDG-PET/CT, MRI, and CSF Cytology in Non-Biopsiable Neurolymphomatosis as a Heralding Sign of Recurrent Non-Hodgkin's Lymphoma. CUREUS. 7.Full Text via DOI: 10.7759/cureus.319 PMID: 26487995
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2015Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 667-678.Full Text via DOI: 10.1016/j.bbadis.2014.07.031 PMID: 25108281
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2015Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).. Case reports in genetics. 496053.Full Text via DOI: 10.1155/2015/496053 PMID: 26543653
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2015Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.. Case reports in genetics. 239167.Full Text via DOI: 10.1155/2015/239167 PMID: 25878907
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2014Clinical Reasoning: A 47-year-old woman with left shoulder pain after a fall. NEUROLOGY. E112-E116.PMID: 25200718
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2014Factors influencing aversion to specific electrodiagnostic studies. BRAIN AND BEHAVIOR. 4:698-702.Full Text via DOI: 10.1002/brb3.240 PMID: 25328846
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2014Treating Epilepsy in the Setting of Medical Comorbidities. CURRENT TREATMENT OPTIONS IN NEUROLOGY.Full Text via DOI: 10.1007/s11940-014-0298-1 PMID: 24861129
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2014Teaching NeuroImages: Intraneural ganglion cyst of the tibial nerve. NEUROLOGY. E174-E175.Full Text via DOI: 10.1212/WNL.0000000000000429 PMID: 24843041
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2013Three-dimensional volumetric computed tomographic scoring as an objective outcome measure for chronic rhinosinusitis: clinical correlations and comparison to Lund-Mackay scoring. INTERNATIONAL FORUM OF ALLERGY & RHINOLOGY. 3:963-972.Full Text via DOI: 10.1002/alr.21219 PMID: 24106202
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2012Neuroleukemiosis: an unusual cause of peripheral neuropathy. LEUKEMIA & LYMPHOMA. 53:2405-2411.Full Text via DOI: 10.3109/10428194.2012.691480 PMID: 22571477
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2011Gender Differences in Presenting Signs and Symptoms of Acute Ischemic Stroke: A Population-Based Study. GENDER MEDICINE. 8:312-319.Full Text via DOI: 10.1016/j.genm.2011.08.001 PMID: 21925968
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2009The biography of Mary E. O'Sullivan: an early American headache specialist. CEPHALALGIA. 29:1028-1033.Full Text via DOI: 10.1111/j.1468-2982.2009.01845.x PMID: 19735530
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Full Name
- Nivedita Jerath, MD