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
EULAR Recommendations for the Use of Imaging in Large Vessel Vasculitis in Clinical Practice
Ann Rheum Dis 77:636-643, Dejaco,C.,et al, 2018
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
A 30-year-old man with headache and sleep disturbance
Neurol 90:e1535-e1540, English, S.W.,et al, 2018
Dysphagia and a rash
BMJ 361:k1590, McFarlane, M. & Disney, B., 2018
A 75-year-old man with parkinsonism, mood depression, and weight loss
Neurol 90:572-575, Frattini, E.,et al, 2018
Clinicopathologic Conference, Cushings syndrome due to a well-differentiated, low-grade thymic neuroendocrine tumor with corticotropin
NEJM 378:2322-2332, Case 18-2018, 2018
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
Clinicopathological Conference, Insulinoma
NEJM 379:376-384, Case 23-2018, 2018
Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
Neuropsych Dis Treat 13:2175-2179, Wang,J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 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 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
Pure Sensory Ganglionopathy as the First Sign of Relapse in Non-Hodgkin Lymphoma
Neurol 88:1976-1977, Hossack, M. & McClean, J., 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Diagnosis and Management of Dementia with Lewy Bodies
Neurol 89:88-100, McKeith, I.G.,et al, 2017
A 27-year-old man with unsteady gait
Neurol 89:e120-e123, Fernandez, D.,et al, 2017
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
Clinicopathologic Conference, Primary Progressive Aphasia, Semantic Variant, due to TAR DNA Binding Protein 43 associated Frontotemporal Lobar Degen
NEJM 376:158-167, Case 1-2017, 2017
Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 2017
Autopsy Validation of ���I-FP-CIT Dopaminergic Neuroimaging for the Diagnosis of DLB
Neurol 88:276-283, Thomas, A.J.,et al, 2017
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 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
Menkes Disease Mimicking Child Abuse
Pediat Dermatol 34:e132-e134, Droms, R.J.,et al, 2017
A 64-year-old Man with Visual Distortions
Neurol 87:e252-e256, McGrath, E.R.,et al, 2016
Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mills Syndrome
Neurol 87:e54, Porto, F.H.G.,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
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
AJNR 36:194-201, Baker, E.H.,et al, 2015
Prevalence of Cerebral Amyloid Pathology in Persons without Dementia
JAMA 313-1924-1938,1913, Jansen, W.J.,et al, 2015
Prevalence of Amyloid PET Positivity in Dementia Syndromes
JAMA 313:1939-1949,1913, Ossenkoppele, R.,et al, 2015
Hypometabolism of the Primary Motor Cortex in Primary Lateral Sclerosis
Neurol 84:e206, Cosgrove, J.,et al, 2015
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Clinicopathologic Conference, Primary Central Nervous System Diffuse Large B-cell Lymphoma
NEJM 373:367-377, Case 23-2015, 2015
Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Non-Alzheimers Dementia 2 Lewy Body Dementias
Lancet 386:1683-1697, Walker, Z.,et al, 2015
Nigrosome 1 Detection at 3T MRI for the Diagnosis of Early-Stage Idiopathic Parkinson Disease: Assessment of DIagnostic Accuracy and Agreement on Imaging Asymmetry and Clinical Laterality
AJNR 36:2010-2016, Noh, Y.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin B12 (Cobalamin) Deficiency (Subacute Combined Degeneration)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014
Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
A 47-year-old Woman with Left Shoulder Pain after a Fall
Neurol 83:e112-e116, Jerath, N.U.,et al, 2014