A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Leukoencephalopathy with Ataxia, Hypodontia, and Hypomyelination
Neurol 64:1461-1464, Wolf,N.I.,et al, 2005
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Diagnostic Criteria for Rett Syndrome
The Rett Syndrome Diagnostic Criteria Work Group, Ann Neurol 23:425-4281988., , 1988
Spontaneous Intracranial Hypotension Associated with Vascular Malformations
AJNR 46:426-432, Mamlouk,M.D.,et al, 2025
Dextromethorphan-Associated Neurotoxicity with Cerebellar Edema Syndrome in Young Children:Neuroimaging Features
AJNR 46:390-394, Sharma,S.,et al, 2025
Polka Dot Intracerebral Hemorrhage in Leukemia
Stroke 56:e49-e50, Rebchuk,A.D.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
Bobble-Head Doll Syndrome in a Child
Neurol 104: e213694, Chityala,A.,et al, 2025
SWI Filtered-Phase Imaging in Basal Ganglia Stroke Caused by Mineralizing Angiopathy of Childhood
Neurol 105: e213730, Bektas,G.,et al, 2025
Cerebral Air Embolism as a Complication of Emphysematous Infective Endocarditis
Stroke 56:e188, Liang,S.,et al, 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024
Hyperventilation-Induced Alternating Hemiplegia with Concomitant Hemispheric EEG Slowing in a 7-Year-Old Girl with Headache
Neurol 103:e209759, Proietti,J.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasis for Brain Vascular Malformations
AJNR 45:1177-1184, Beslow,L.A.,et al, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Seizures When Exiting a Bath, A Rare Type of Reflex Epilepsy
Neurol 103:e210025, Pascarella,A.,et al, 2024
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024
Multiple Contrast Enhancing Subdural Lesions
BMJ 387:e079362, Liu,J. & Sun,Z., 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease
Ann Neurol 96:1086-1091, Fadda,G.,et al, 2024
Neurocysticercosis School Outbreak in Belgium
Lancet 404:2415-2416, Vanden Driessche,K., et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
Stroke 55:e77-e90, Saposnik,G.,et al, 2024
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Anti-NMDA Receptor Encephalitis Presenting with Cerebellitis in a Pediatric Patient
Neurol 102:e209259, Moehlman,M. & Kornbluh,A.B., 2024
A Teenager With Right-Sides Headache and Periorbital Changes
Neurol 100:144-150, Lax,D.M.,et al, 2023
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Salt and Pepper Sign, PLNTY for Drug-Resistant Epilepsy
Neurol 100:791-795, Paredes-Aragon,E.M.,et al, 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023
A Teenager with Chronic Meningitis-Does Occams Razor Apply?
Neurol 100:828-835, Havuluri,H.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Cavernous Sinus Thrombosis
StatPearls PMID:28846357, Plewa,M.C.,et al, 2023
Brain Abscess and Stroke in Children and Adults with Hereditary Hemorrhagic Telangiectasia
Neurol 100:e2324-e2330, White,A.J.,et al, 2023
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD):Clinical Features and Diagnosis
www.UptoDate.com, Sept, Flanagan,E.P. & Tillema,J-M, 2023
Pediatric and Adult Brain Death/Death by Neurologic Criteria Consensus Guidelines
Neurol 101:1112-1132, Greer,D.M.,et al, 2023
Infectious Mononucleosis: Rapid Evidence Review
Am Fam Physician 107:71-78, Sylventer,J.E.,et al, 2023