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Differential
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basal ganglia, calcification of
calcification, intracranial
carbonic anhydrase II deficiency
CAT scan, abnormal
compression fracture
cranial nerve palsies
enzyme, defect
failure to thrive
fracture, pathologic
genetic neurologic disorders
mental retardation
metabolic acidosis
osteoporosis
psychomotor retardation
renal tubular acidosis
short stature
Showing articles 150 to 200 of 1323 << Previous Next >>

Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018

Clinicopathologic Conference, Poststroke Mania and the Frontal Lobe Syndrome
NEJM 379:182-189, Case 21-2018, 2018

Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

Selenium Toxicity Associated with Reversible Leukoencephalopathy and Cortical Blindness
JAMA Neurol 75:1282-1283, Rae, W.,et al, 2018

Subacute Progressive Ptosis, Ophthalmoplegia, Gait Instability, and Cognitive Changes
JAMA Neurol 75:1284-1285, Lin, J.,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

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Menkes Disease Mimicking Child Abuse
Pediat Dermatol 34:e132-e134, Droms, R.J.,et al, 2017

IGG4-Related Hypertrophic Pachymeningitis Coexpressing Antineutrophil Cytoplasmic Antibodies
Neurol 4:e341-e343, Massey, J., 2017

Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017

Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017

Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017

Cranial Nerve Hypertrophy in IgG4 Anti-Neurofascin 155 Antibody-Positive Polyneuropathy
Neurol 88:e52, Franques, J.,et al, 2017

Clinicopathologic Conference, IgG4-Related Vasculitis
NEJM 376:775-786, Case 6-2017, 2017

A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017

Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017

Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017

Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017

Overview of IgG4-related Disease
UptoDate, July, Moutsopoulos,H.,et al, 2017

A 27-year-old man with unsteady gait
Neurol 89:e120-e123, Fernandez, D.,et al, 2017

Sarcoidosis Limbic Encephalitis
Iran J Neurol 16:156-158, Toudou-Daouda, M.,et al, 2017

A 55-year-old Man with Rapidly Progressive Dementia and Parkinsonism
Neurol 89:e182-e187, Tabuas-Pereira, M.,et al, 2017

A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017

Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017

Hashimotos Thyroiditis and Autoimmune Gastritis
Front Endocrinol 8:00092, Cellini,Miriam,et al, 2017

IgG4-related Disease Presenting with Headache and Papilloedema
BMJ Case Rep doi:10.1136/bcr-2016-216435, Lourenco, E.P.,et al, 2016

Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016

A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016

A Young Man with Recurrent Coma and Refractory Status Epilepticus
JAMA Neurol 73:1243-1244, Sheikh, Z.,et al, 2016

Wenicke Encephalopathy
Neurol 87:1956-1957, Hattingen, E.,et al, 2016

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016

MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016

Reversible Cognitive Decline Diagnosed on Ear Examination
BMJ 352:e1215, Ellis, R.J.B.,et al, 2016

Restless Legs Syndrome Associated with Major Diseases
Neurol 86:1336-1343, Trenkwalder, C.,et al, 2016

A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016

Thiamine Deficiency Presenting as Intraventricular Hemorrhage
Stroke 47:e95-e97, Al-Bayati, A.R.,et al, 2016

Clinicopathologic Conference, IgG4-Related Hypophysitis
NEJM 375:1469-1480, Case 31-2016, 2016

Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015

"Noncognitive" Symptoms of Early Alzheimer Disease
Neurol 84:617-622, Masters, M.C.,et al, 2015

A Young Woman with Isolated Upbeating Nystagmus
Neurol 84:e17-e19, Ong, C.,et al, 2015

Assessment and Management of Behavioral and Psychological Symptoms of Dementia
BMJ 350:h369, Kales, H.C.,et al, 2015

Kleine-Levin Syndrome in 120 Patients: Differential Diagnosis and Long Episodes
Ann Neurol 77:529-540, Lavault, S.,et al, 2015

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

Clinicopathologic Conference, Invasive Neisseria Meningitidis Infection and Primary C8 Deficiency
NEJM 372:1454-1462, Case 11-2015, 2015



Showing articles 150 to 200 of 1323 << Previous Next >>