A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983
Ocular Myopathy
Arch Neurol 20:1, Magora,A.,et al, 1969
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
A 69-Year-Old Woman with Ophthalmoplegia
Neurol 104:e213763, Yu, H & Frey, J, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
Neurol 104: e213682, Hayakawa,I.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis
Ann Neurol 92:201-212, Lindgren, U.,et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Progressive Neurological Impairment and an Enhancing Brainstem Lesion in a Middle-Aged Man
JAMA Neurol 76:1397-1398, Gupta, S.,et al, 2019
Dysphagia and a rash
BMJ 361:k1590, McFarlane, M. & Disney, B., 2018
Wilson Disease
NIDDK Oct2018, , 2018
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Mystery Case: A 63-year-old Man with Progressive Proximal Pain and Weakness
Neurol 82:e26-e29, Scripko, P.D.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Inflammatory Myopathies with Anti-Ku Antibodies
Medicine 91:95-102, Rigolet,A.,et al, 2012
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
Clinicopathologic Conference, Thymoma with Paraneoplastic Myasthenia Gravis, Polymyositis and Myocarditis, and Brain Stem Encephalitis
NEJM 365:2413-2422, Case 39-2011, 2011
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Juvenile Dermatomyositis and Other Idiopathic Inflammatory Myopathies of Childhood
Lancet 371:2201-2212, Feldman,B.M.,et al., 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Polymyositis Masquerading as Motor Neuron Disease
Arch Neurol 60:1001-1003, Ryan,A.,et al, 2003
Intravenous Immunoglobulin for Dysphagia of Inclusion Body Myositis
Neurol 58:326-327, Cherin,P.,et al, 2002
Clinicopath Conf,Systemic Sclerosis with Scleroderma Renal Crisis
NEJM 345:596-605, Case 26-2001, 2001
Dermatomyositis
Lancet 355:53-57, Callen,J.P., 2000
Inclusion Body Myositis
JNNP 60:251-255, Garlepp,M.J.&Mastaglia,F.L., 1996