Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
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: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinicopath Conf., Chronic Inflammatory Demyelinating Polyneuropathy
NEJM 348:735-743, Case 6-2003, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
Localization of the Giant Axonal Neuropathy Gene to Chromosome 16q24
Ann Neurol 43:143-148, Flanigan,K.M.,et al, 1998
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Peripheral Neuropathy in Children with HIV Infection
Neurol 49:207-212, Floeter,M.K.,et al, 1997
Retroviruses in the Nervous System:Neurological Involv in AIDS
Neurological Disorders Assoc with HTLV-I, NIH Symposium (Suppl) , Ann Neurol 23:S1-S2178., , 1988
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
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
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Rapidly Progressive Gait Disorder and Cranial Nerves Involvement in a 9-year-old boy
Neurol 94:e330-e334, Lipp, A.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,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
Wilson Disease
NIDDK Oct2018, , 2018
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Guillain-Barre Syndrome following tuberculosis: A rare association
J Neurosci Rural Pract 8:296-299, Lakhotia, A.N.,et al, 2017
Incomplete Miller-Fisher Syndrome with Advanced Stage Burkitt Lymphoma
Indian Pediat 54:413-415, Ozdemir,Z.C.,et al, 2017
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Acute Flaccid Myelitis; A Clinical Review of US Cases 2012-2015
Ann Neurol 80:326-338, Messacar, K.,et al, 2016
Mycoplasma Pneumoniae Triggering the Guillain-Barre Syndrome
Ann Neurol 80:566-580, Meyer Sauteur, P.M.,et al, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
MRI Findings in Children with Acute Flaccid Paralysis and Cranial Nerve Dysfunction Occurring during the 2014 Enterovirus D68 Outbreak
AJNR 36:245-250, Maloney, J.A.,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
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Enterovirus Vaccines for an Emerging Cause of Brain-Stem Encephalitis
NEJM 370:792-794, McMinn, P.C., 2014