A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,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
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Pediatric Acquired Immunodefieiency Syndrome
Am J Dis Child 142:29-35, Belman,A.L.,et al, 1988
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Human Cytomegalovirus Infection & Disorders of the Nervous System
Jr. , Arch Neurol 41:310-320984., Bale,J.F., 1984
A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983
Effects of Viral Infection on the Developing Nervous System
Seminars in Medicine of the Beth Israel Hosp, Boston NEJM 287:5991972., Johnson,R., 1972