Neurology Specific Literature Search   
 
[home][thesaurus]
    

Enter your terms
above and click
the 'Search' button.
Showing articles 0 to 37 of 37

Filter Applied: chromosomal abnormality (Click to remove)

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995

Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011

Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
Stroke 42:e1-e3, Ng, A.S.L.,et al, 2011

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

The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009

Tuberous Sclerosis Complex: A Tale of Two Genes
Neurol 70:904-905, Nass,R. &Crino,P.B., 2008

Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008

Neuroblastoma -- from Genetic Profiles to Clinical Challenge
NEJM 353:2215-2217, Kushner,B.H. &Cheung,N.-K.V., 2005

Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004

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

Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003

A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
Ann Neurol 46:671-678, Peiffer,A.,et al, 1999

From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996

Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995

New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
JNNP 59:579-585, Verin,M.,et al, 1995

Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994

Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
Neurol 43:1355-1360, Ronen,G.M.,et al, 1993

New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Brain Tumors
NEJM 324:1471-1476, 1555-15641991., Black,P.McL., 1991

Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990

Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990

Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990

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

Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
NEJM 300:700-704, Saxon,A.,et al, 1979

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Ataxia Telangiectasia
Arch Neurol 35:553-554, Teplitz,R.L., 1978

The Lissencephaly, (Agyria) Syndrome in Siblings
Arch Neurol 35:608-611, Garcia,C.A.,et al, 1978

Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972



Showing articles 0 to 37 of 37