Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
Neurol 104: e213682, Hayakawa,I.,et al, 2025
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Wilson Disease
NIDDK Oct2018, , 2018
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 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
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
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
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
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
MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988
Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Ocular Myopathy
Arch Neurol 20:1, Magora,A.,et al, 1969
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
Addressing Systemic Complications of Acute Stroke: A Scientific Statement From the American Heart Association
Stroke 56:e15-e29, Kumar,S.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis
Ann Neurol 92:201-212, Lindgren, U.,et al, 2022
Advanced Dementia
NEJM 372:2533-2540, Mitchell, S.L., 2015
A 32-year-old Woman with Right-Sided Numbness and Word-Finding Difficulties
Neurol 83:e98-e102, Busza, A.,et al, 2014
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Botulism
Adams & Victors Principles of Neurology Chp 43, pg 1218, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Rabies
Adams & Victors Principles of Neurology, Chp 33, pg 753, 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
Clinicopathologic Conference, Rabies Encephalitis
NEJM 368:172-180, Case 1-2013, 2013
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
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
Post-acute care and secondary prevention after ischaemic stroke
BMJ 342:d2083, McArthur, K.S.,et al, 2011
A Strange Case of Waitress Headache
Lancet 378:1824, Libera, D.D.,et al, 2011
Transverse Myelitis
NEJM 363:564-572, Frohman,E.M. &Wingerchuk,D.M., 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Juvenile Dermatomyositis and Other Idiopathic Inflammatory Myopathies of Childhood
Lancet 371:2201-2212, Feldman,B.M.,et al., 2008
Effect of Timing and Method of Enteral Tube Feeding For Dysphagic Stroke Patients (FOOD): a Multicentre Randomised Controlled Trial
Lancet 365:764-772, 729, The FOOD Trial Collaboration, 2005
Does This Patient Have Myasthenia Gravis?
JAMA 293:1906-1914, Scherer,K.,et al, 2005
Dysphagia After Stroke
Stroke 36:2756-2763, Martino,R.,et al, 2005
Clinical Features and Natural Histry of Progressive Supranuclear Palsy, A Clinical Cohort Study
Neurol 60:910-916, Nath,W.,et al, 2003
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
Explaining Oropharyngeal Dysphagia After Unilateral Hemispheric Stroke
Lancet 350:686-692, Hamdy,S.,et al, 1997
Clinicopath Conf
Botulism, Case 22-1997, NEJM 337:184-190997., , 1997
A Random Prospect Compar of Percutaneous Endoscopic Gastrostomy & Nasogastric Tube Feeding after Acute Dysphagic Stroke
BMJ 312:13-16, Norton,B.,et al, 1996