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Filter Applied: mental retardation (Click to remove)

The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012

Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008

Phenylketonuria
eMedicine (December), Arnold,G.L., 2007

Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005

Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
AJNR 22:1583-1586, Phillips,M.D.,et al, 2001

Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999

Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998

Cognitive Function and Academic Performance in Neurofibromatosis 1:North
K. N. , et al, Neurol 48:1121-11277., , 1997

Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997

MRI of White Matter Changes in the Sjogren-Larsson Syndrome
Neuroradiology 37:576-577, Hussain,M.Z.&Aihara,M., 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Twinning and Neurologic Morbisity
Am J Dis Child 146:1110-1113, Scheller,J.M.&Nelson,K.B., 1992

Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992

The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990

Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985

An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016

Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014

Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Gray Matter Heterotopia
Neurol 55:1603-1608, Barkovich,A.J. & Kuzniecky,R.I., 2000

Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998

Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997

X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996

Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990

Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
Ann Neurol 25:547-554, Kuzniecky,R.,et al, 1989

Neurologic Status and Intracranial Hemorrhage in Very-Low-Birth Weight Preterm Infants
Am J Dis Child 143:1186-1190, Ford,L.M.,et al, 1989

Hypomelanosis of Ito, Wood's Light & Magnetic Resonance Imaging as Diagnostic Measures
Arch Neurol 43:848-850, Ardinger,H.H.&Bell,W.E., 1986

Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984

Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
Neurol 32:1013-1016, Ross,D.L.,et al, 1982

Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981

The Aicardi Syndrome:Report of 4 Cases & Review of the Literature
Ann Neurol 5:475-482, Bertoni,J.M.,et al, 1979

Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978

Familial Chorea & Myoclonus Epilepsy
Neurol 28:913-919, Takahata,N.,et al, 1978

Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977

Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014

The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014

Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013

Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012

Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012

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

Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009

Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008

Mirror Writing: Neurological Reflections on an Unusual Phenomenon
JNNP 78:5-13, Schott,G.D., 2007



Showing articles 0 to 50 of 176 Next >>