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Filter Applied: mental retardation (Click to remove)

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

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

Startle Provoked Epileptic Seizures:Features in 19 Patients
JNNP 61:151-156, Manford,M.R.A.,et al, 1996

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993

Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986

Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985

Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984

Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
(Ed) , 1975. W. B. Saunders Co, p, Gardner,L.I., 1975

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

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

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

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

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

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

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

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

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

Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007

Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007

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

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

Developmental Neurotoxivity of Industrial Chemicals
Lancet 368:2167-2178, Grandjean,P. &Landrigan,P.J., 2006

Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
Neurol 65:1364-1369,1346, Zanni,G.,et al, 2005

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

Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

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

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

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

New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999

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

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
Epilepsia 39:942-951, Canevini,M.P.,et al, 1998

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

Association of Tuberous Sclerosis of Temporal Lobes with Autism and Atypical Autism
Lancet 349:392-395, Bolton,P.F.&Griffiths,P.D., 1997

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

The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997

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

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

Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996



Showing articles 0 to 50 of 173 Next >>