Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Segmental Zoster Paresis of Limbs: Report of Three Cases and Review of Literature
Neurologist 13:313-317, Kawajiri,S.,et al, 2007
Hypertrophy of Multiple Cranial Nerves and Spinal Roots in Chronic Inflammatory Demyelinating Neuropathy
JNNP 67:685-687, Duarte,J.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Erroneous Diagnosis Corrected After 28 Years
Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fibrodysplasia Ossificans Progressiva, The Clinical Features & Natural Hx of 34 Pts
J Bone Joint Surg 64B:76-83, Connor,J.M.&Evans,D.A.P., 1982
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
Clinicopathologic Conference, Factitious Disorder
NEJM 388:1609-1615, Case 13-2023, 2023
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 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
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Pterygoid Myositis Mimicking Giant Cell Arteritis
Neurol 92:e2297, Na, S.,et al, 2019
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Degenerative Cervical Myelopathy
BMJ 360:k186, Davies, B.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
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
Clinicopathologic Conference, Eosinophilic Granulomatosis with Polyangiitis
NEJM 377:1569-1578, Case 32-2017, 2017
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
A 57-year-old Man with Subacute Gait Difficulty and Hand Tremor
Neurol 87:e110-e113, Paliwal, V.K.,et al, 2016
Sudden Neurologic Death Masquerading as Out-of-Hospital Sudden Cardiac Death
Neurol 87:1669-1673, Kim, A.S.,et al, 2016
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,et al, 2016
Stiff Person Syndrome Masquerading as Panic Attacks
Lancet 383:668, Ho, C.S.H.,et al, 2014
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Anti-HMGCR Autoantibodies in European Patients with Autoimmune Necrotizing Myopathies
Medicine 93:150-157, Allenbach, Y.,et al, 2014
A 20-year-old Woman with Rapidly Progressive Weakness
Neurol 82:e200-e204, Paganoni, S.,et al, 2014
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
A Case of Early-Onset Rapidly Progressive Dementia
JAMA Neurol 71:1445-1449, Cachia, D.,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
Juvenile Myasthenia Gravis: Recommendations for Diagnostic Approaches and Treatment
Neuropediatrics 45:75-83, Marina, A.D.,et al, 2014
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Clinicopathologic Conferences, Celiac Disease, Addisons Disease, and Major Depression Disorder
NEJM 368:2015-2024, Case 16-2013, 2013
The Eye of the Beholder: Inter-rater Agreement among Experts on Psychogenic Jerky Movement Disorders
JNNP 84:742-747, Van de Salm, S.,et al, 2013
Spontaneous Thalamic Hemorrhage from a Lateral Posterior Choroidal Artery Aneurysm
World Neurosurg 80:e1-e6, Fukuda, H.,et al, 2013
Sporadic Creutzfeldt-Jakob Disease with Focal Findings: Caveats to Current Diagnostic Criteria
Neurol Internat 5:1-5, Mader, E.C.,et al, 2013
Primary Sjogren Syndrome
BMJ 344:e3821, Ramos-Casals, M.,et al, 2012
Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK
JNNP 82:646-651, Heath, C.A.,et al, 2011
Clinical Reasoning: A 34-year-old man with recurrent limb weakness
Neurol 77:e68-e72, Karam, C.,et al, 2011