A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Neurologic Findings in Men with Isolated Hypogonadotropic Hypogonadism
Neurol 39:223-226, Schwankhau,J.D.,et al, 1989
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Multiple Endocrine Neoplasia, Type 2b:Phenotype Recognition; Neurological Features & Their Pathological Basis
Ann Neurol 6:302-314, Dyck,P.J.,et al, 1979
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977
Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977
Charcot-Marie-Tooth Disease Associated With"Essential Tremor"
Neurol Sciences 28:17-40, Salisachs,P.J., 1976
A 67-Year-Old Woman with Progressive Tingling Sensations and Imlalance
Neurol 100:151-157, Horta,L.F.B.,et al, 2023
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
Neurol 97:342-347, Zahid, A.,et al, 2021
Pyogenic Brain Abscesses in a Patient with Digital Clubbing
JAMA Neurol 77:129-130, Paliwal, V.K.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Burning Pain in the Legs
NEJM 383:e18, Sacks, C.A., 2020
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018
A 74-year-old Woman with Bilateral Foot Pain and a Palmar Rash
Neurol 88:e44-e50, Wynn, D.P.,et al, 2017
Morvan Syndrome as a Paraneoplastic Disorder of Thymoma with Anti-CASPR2 antibodies
Lancet 389:1367-1368, Vale, T.C.,et al, 2017
A Rare Case of Bilateral Optic Neuritis and Guillain-Barre Syndrome Post Mycoplasma Pneumoniae Infection
Neuro Opth 41:41-47, Baheerathan, A.,et al, 2017
Diabetic Sensory and Motor Neuropathy
NEJM 374:1455-1464, Vinik, A.I.,et al, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Foot Drop
BMJ 350:h1736, Stevens, F.,et al, 2015
Burning Hands and Feet
Neurol 84:e146-e152, Chan, A.C. & Wilder-Smith, E., 2015
Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
Paroxysmal Burning Pain Caused by Erythromelalgia
Lancet 383:1692, Kondo, T.,et al, 2014
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
Erythromelalgia? A Clinical Study of People Who Experience Red, Hot, Painful Feet in the Community
Int J Vasc Med ID=864961, Friberg, D.,et al, 2013
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011