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acyl CoA dehydrogenase deficiency
adverse drug reaction
aminoacidopathies
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type 1 muscle fiber
urine, dark
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Showing articles 250 to 300 of 2147 << Previous Next >>

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

IgG4-Related Disease and Intracranial Hypertension: Case Report of a Novel Mechanistic Association
J Neurol Sci 385:75-77, Healy, J.,et al, 2018

Cognitive Impairment Before Intracerebral Hemorrhage is Associated with Cerebral Amyloid Angiopathy
Stroke 49:40-45, Banerjee, G.,et al, 2018

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

Neurological Manifestations Among US Government Personnel Reporting Directional Audible and Sensory Phenomena in Havana, Cuba
JAMA 319:1125-1133, 1098, 1079, Swanson, R.L.,et al, 2018

Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018

Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018

A 12-year-old girl with headache and change in mental status
Neurol 90:524-529, Patel, P.,et al, 2018

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

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

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017

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

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

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

A Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 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

Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017

A Woman in Her 60s with Chronic Meningitis from Aspergillus
JAMA Neurol 74:348-352, Pichler, M.R.,et al, 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

A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017

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

Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
Lancet: 389:538-546,483, Griffiths, P.D.,et al, 2017

A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017

A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017

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

Clinicopathologic Conference, Probable Acute Leptospirosis
NEJM 377:268-278, Case 22-2017, 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 Case of Fulminant Encephalopathy in a 69-year-old Woman
Neurol 89:e109-e114, Lamotte, G. and Williams, C, 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

Clinicopathologic Conference, Eosinophilic Granulomatosis with Polyangiitis
NEJM 377:1569-1578, Case 32-2017, 2017

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

Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 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

Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 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



Showing articles 250 to 300 of 2147 << Previous Next >>