A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
Congenital Ocular Motor Apraxia
Arch Neurol 36:29-31, Orrison,W.W.,et al, 1979