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
A 15-month-old boy with Progressive Lethargy and Spasticity
Neurol 89:e135-e139, Zhang, R.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
Extracranial Etiology of Acute Onset Ataxia and Weakness
Neurol 99:898-899, Nordli,D.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
Neurol 94:e330-e334, Lipp, A.,et al, 2020
A 14-Year-Old Boy with Acute Weakness, Parethesias, and Headache
Neurol 95:e1285-e1289, Seese, R.R.,et al, 2020
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Acute Flaccid Myelitis; A Clinical Review of US Cases 2012-2015
Ann Neurol 80:326-338, Messacar, K.,et al, 2016
Clinical Reasoning: A 12-year-old Boy with Ascending Weakness
Neurol 80:e110-ee114, French, K.F.,et al, 2013
Diagnosis of Lambert-Eaton Myasthenic Syndrome in Children
Neurol 80:e220-e222, Morgan-Followell,B.& de los Reyes,E., 2013
Clinical Reasoning: A Case of Acute Onset Bilateral Ptosis in a Young Child
Neurol 79:e155-e160, Das, D.,et al, 2012
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Clinicopath Conf., Chronic Inflammatory Demyelinating Polyneuropathy
NEJM 348:735-743, Case 6-2003, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
A Six-Year-Old Girl with Tick paralysis
NEJM 342:90-94, Felz,M.W.,et al, 2000
Clinical and Electrophysiological Aspects of Acute Paralytic Disease of Children and Young Adults in Northern China
Lancet 338:593-597, McKhann,G.M.,et al, 1991
Guillain-Barre Syndrome with Hydrocephalus in Early Infancy
Arch Neurol 34:567, Gilmartin,R.C.,et al, 1977
Neonatal Ophthalmoplegia with Microfibers:A Reversible Myopathy
Neurol 27:974, Hanson,P.A.,et al, 1977
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Tourettes Syndrome
NEJM 363:2332-2338, Kurlan,R., 2010
Clin. Path. Conference
Adrenoleukodystrophy, with Peripheral Neuropathy, Case Record 5-1982, NEJM 306:286-29382., , 1982
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
Stroke 55:e77-e90, Saposnik,G.,et al, 2024
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,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
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Thalamus L-Sign: A Potential Biomarker of Neonatal Partial, Prolonged Hypoxic-Ischemic Brain Injury or Hypoglycemic Encephalopathy
AJNR 43:919-925, Misser, S.K.,et al, 2022
Case Report of Lambl Excrescences in a Pediatric Patient with Multifocal Strokes
Neurol 99:73-76, Robertson, D.M.,et al, 2022
Neuroimaging Findings in Parechovirus Encephalitis: A Case Series of Pediatric Patients
Pediatr Neurol 130:41-45, Tierradentro-Garcia, L.O.,et al, 2022
Imaging Findings in Children Presenting with CNS Nelarabine Toxicity
AJNR 43:1802-1809, Serrallach,B.L.,et al, 2022
Neurologic Involvement in Children and Adolescents Hospitalized in the United States for Covid-19 or Multisystem Inflammatory Syndrome
JAMA Neurol 78:536-547, LaRovere, K.L.,et al, 2021
Body Mass Index in 1.9 Million Adolescents and Stroke in Young Adulthood
Stroke 52:2043-2052, Bardugo, A.,et al, 2021
A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Clinical and Neuroimaging Findings in MOGAD-MRI and OCT
Clin Exp Immunol 206:266-281, Bartels,F.,et al, 2021
Clinical and Radiologic Features of Pedicatric Opioid Use-Associated Neurotoxicity with Cerebellar Edema (POUNCE) Syndrome
Neurol 94:710-712, Kim, D.D. & Prasad, A.N., 2020
Association of Pediatric Acute-Onset Neuropsychiatric Syndrome with Microstructural Differences in Brain Regions Detected via Diffusion-Weighted Magnetic Resonance Imaging
JAMA Network Open 3:doi:10.1001/JAMANETWORKOPEN.2020.4063, Zheng, J.,et al, 2020
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Long-Term Treatment Effect in Cerebrotendinous Xanthomatosis Depends on Age at Treatment Start
Neurol 92:e83-e95, Stelten, B.M.L.,et al, 2019