Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,et al, 2007
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Hypertrophy of Multiple Cranial Nerves and Spinal Roots in Chronic Inflammatory Demyelinating Neuropathy
JNNP 67:685-687, Duarte,J.,et al, 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
Neurol 46:1133-1137, Pareyson,D.,et al, 1996
Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Recent Advances in the Diagnosis and Management of Cluster Headache
BMJ 376:e059577, Schindler, E. & Burish, M.J., 2022
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 387:1022-1032, Case 28-2022, 2022
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Isolated Oculomotor Nerve Palsy due to Pituitary Apoplexy Missed on CT scan
Neurol 94:e1774-e1777, Marzoughi, S.,et al, 2020
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
A Misdiagnosis of Atypical Trigeminal Neuralgia
Neurol 93:124-131, Duvall, J.R. & Robertson, C.E., 2019
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Recurrent Dysarthria and Ataxia in a Young Girl
JAMA Neurol 75:125-126, Romba, M.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect
Front Neurol doi:10.3389/fneur.2018.0069, Gagliardi, D.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Patient with a History of Encephalomyelitis and Recurrent Optic Neuritis
Neurol 89:e231-e234, Gutman, J.M.,et al, 2017
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,et al, 2016
Corticosteroid-Induced Paraplegia - A Diagnostic Clue for Spinal Dural Arterial Venous Fistula
JAMA Neurol 72:833-834, Hocker, S., 2015
CIDP Diagnostic Pitfalls and Perception of Treatment Benefit
Neurol 85:498-504, Allen, J.A. & Lewis, R.A., 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
A Young Woman with Blurred Vision and Distal Paresthesias
JAMA Neurol 72:1519-1523, Kung, N.H.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Pharyngeal-Cervical-Brachial Variant of Guillain-Barr� Syndrome
JNNP 85:339-344, Wakerley, B.R. & Yuki, N., 2014
A 14-Year-Boy with Spells of Somnolence and Cognitive Changes
Neurol 82:e142-e146, de Gusmao, C.M.,et al, 2014
A 20-year-old Woman with Rapidly Progressive Weakness
Neurol 82:e200-e204, Paganoni, S.,et al, 2014
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Detection of Peripheral Nerve Pathology
Neurol 80:1634-1640, Zaidman, C.,et al, 2013
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
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
Recognizing Guillain-Barr� Syndrome in Preschool Children
Neurol 76:807-810, Roodbol,J.,et al, 2011