A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Diagnosis of Patients Presenting to a Huntington Disease (HD) Clinic without a Family History of HD
Neurol 47:1578-1580, Nance,M.A.,et al, 1996
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Cognitive and Clinical Characteristics of Patients with Limbic-Predominant Age-Related TDP-43 Encephalopathy
Neurol 100:e2027-e2035, Pagnotti,R.M.B.,et al, 2023
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
Brain DOI: 10.1093/brain/awz099, Nelson, P.T.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,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
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Progressive Aphasia with Rapidly Progressive Dementia in a 49 Year Old Woman
JNNP 66:238-243, Greene,J.D.W.,et al,, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Recent Advances in the Diagnosis and Management of Cluster Headache
BMJ 376:e059577, Schindler, E. & Burish, M.J., 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
Isolated Oculomotor Nerve Palsy due to Pituitary Apoplexy Missed on CT scan
Neurol 94:e1774-e1777, Marzoughi, S.,et al, 2020
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 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
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
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Diagnosis and Management of Dementia with Lewy Bodies
Neurol 89:88-100, McKeith, I.G.,et al, 2017
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,et al, 2016
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Significant Period Between Presentation and Diagnosis in Basilar Artery Occlusion
Stroke 46:e79-e81, Organek, N.,et al, 2015
Corticosteroid-Induced Paraplegia - A Diagnostic Clue for Spinal Dural Arterial Venous Fistula
JAMA Neurol 72:833-834, Hocker, S., 2015
Non-Alzheimers Dementia 2 Lewy Body Dementias
Lancet 386:1683-1697, Walker, Z.,et al, 2015
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,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
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,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
Dilemmas in the Diagnosis of Acute Community-Acquired Bacterial Meningitis
Lancet 380:1684-1692,1623, Brouwer, M.,et al, 2012
Rapidly Progressive Alzheimer Disease
Arch Neurol 68:1124-1130, Schmidt, C.,et al, 2011
Clinical Reasoning: A 34-year-old man with recurrent limb weakness
Neurol 77:e68-e72, Karam, C.,et al, 2011
Clinical Reasoning: Seizures in a Child With Sensorineural Deafness and Agitation
Neurol 74:e61-e63, Auvin,S., et al, 2010
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Positron Emission Tomography in Diagnosis of Visual Variant Alzheimer Disease
J Neuro-Ophthalmol 29:149-150, Finelli,P.F., 2009
Subarachnoid Haemorrhage
BMJ 339:569-570, Hankey,G. &Nelson,M., 2009