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Differential
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amenorrhea
ataxia
ataxia, progressive
cerebellar ataxia, primary
cerebellar degeneration
developmental retardation
electroencephalogram, abnormalities of
gene mutation
growth hormone deficiency
hypodontia
hypogonadism
hypomyelination
imbalance
intellectual deficit
leukodystrophy
leukodystrophy, 4H
leukoencephalopathy
MRI, abnormal
myopia
progressive neurologic disorder
seizure
short stature
teeth, abnormal
white matter disease
Showing articles 50 to 100 of 151 << Previous Next >>

Metachromatic Leukodystrophy:Diffusion MR Imaging Findings
AJNR 23:1424-1426, Sener,R.N., 2002

Toxic Leukoencephalopathy
NEJM 345:425-432, Filley,C.M. &Kleinschmidt-DeMasters,B.K., 2001

Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000

Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
Lancet 356:713-718, Shapiro,E. et al, 2000

MR Imaging and Proton MR Spectorscopy in Adult Krabbe Disease
AJNR 21:1478-1482, Farina,L. et al, 2000

Clinicopath Conf,Acute Hemorrhagic Leukoencephalitis,Case 1-1999
NEJM 340:127-135, , 1999

A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
Neurol 52:1668-1672, Varho,T.,et al, 1999

Optic Nerve Enlargement in Krabbe's Disease
AJNR 20:1228-1231, Jones,B.V.,et al, 1999

Chronic Progressive Leukoencephalopathy in Adult Celiac Disease
Neurol 50:820-822, Beyenburg,S.,et al, 1998

Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
Radiology 206:811-816, Lamer,S.,et al, 1998

Long-Term Stabilization After Bone Marrow Transplantation in Juvenile Metachromatic Leukodystrophy
Arch Neurol 55:98-99, Kidd,D.,et al, 1998

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997

Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997

MR of Childhood Metachromatic Leukodystrophy
AJNR 18:733-738, Kim,T.S.,et al, 1997

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Leukodystrophy in Patients with Ovarian Dysgenesis
Ann Neurol 41:654-661, Schiffman,R.,et al, 1997

Late Juvenile Metachromatic Leukodystrophy Treated with Bone Marrow Transplantation:A 4-Year Follow-up Study
Neurol 46:254-256, Navarro,C.,et al, 1996

Progressive Familial Leukodystrophy of Late Onset
Neurol 46:429-434, Knopman,D.,et al, 1996

Cognitive and Brain Magnetic Resonance Imaging Findings in Adrenomyeloneuropathy
Ann Neurol 40:675-678, Edwin,D.,et al, 1996

Immunosuppression-Induced Leukoencephalopathy from Tacrolimus (FK506)
Ann Neurol 40:575-580, Small,S.L.,et al, 1996

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

Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995

A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
Neurol 45:394-395, Pratt,V.M.,et al, 1995

Clinical Symptoms of Adult Metachromatic Leukodystrophy and Arylsulfatase A Pseudodeficiency
Arch Neurol 52:408-413, Hageman,A.T.M.,et al, 1995

Hereditary Leukoencephalopathy and Palmoplantar Keratoderma:A New Disorder with Increased Skin Collagen Content
Neurol 45:331-337, Lossos,A.,et al, 1995

Serial MR After Bone Marrow Transplantation in Two Patients with Metachromatic Leukodystrophy
AJNR 15:1929-1932, Stillman,A.E.,et al, 1994

Characteristics of the Dementia in Late-Onset Metachromatic Leukodystrophy
Neurol 44:662-665, Shapiro,E.G.,et al, 1994

Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994

Diffuse Leukodystrophy with a Large-Scale Mitochondrial DNA Deletion
Lancet 343:1397-1398, Nakai,A.,et al, 1994

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

X-Linked Adrenoleukodystrophy:Adult Cerebral Variant
Neurol 43:1518-1522, Farrell,D.F.,et al, 1993

A Two-Year Trial of Oleic and Erucic Acids ("Lorenzo's Oil") as Treatment for Adrenomyeloneuropathy
NEJM 329:745-752, 8011993., Aubourg,P.,et al, 1993

Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992

MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992

Adult-Onset Metachromatic Leukodystrophy Presenting as Isolated Peripheral Neuropathy
Neurol 42:1396-1398, Fressinaud,C.,et al, 1992

Psychiatric Disturbances in Metachromatic Leukodystrophy
Arch Neurol 49:401-406, Hyde,T.M.,et al, 1992

Longitudinal Neurophysiologic Studies in Pt with Metachromatic Leukodystrophy Following Bone Marrow Trnspl
Arch Neurol 49:1088-1092, Dhuna,A.,et al, 1992

Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991

Nystagmus of Pelizaeus-Merzbacher Disease
Arch Neurol 48:87-91, Trobe,J.D.,et al, 1991

Neurodegenerative Diseases of Childhood:MR and CT Evaluation
J Comput Assist Tomogr 15:210-222, Mirowitz,S.A.,et al, 1991

Membranous Lipodystrophy:MR Imaging Appearance of the Brain
Radiology 180:793-797, Araki,T.,et al, 1991

Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991

The Diagnosis of Childhood Neurodegenerative Disorders Presenting as Dementia in Adults
Neurol 41:794-798, Coker,S.B., 1991

Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
Ann Neurol 30:106-110, Marks,H.G.,et al, 1991

Adrenomyeloneuropathy Presenting as Addison's Disease in Childhood
NEJM 322:13-16, 54-551990., Sadeghi-Nejad,A.&Senior,B., 1990

The Leukodystrophies
NEJM 322:54-55, Menkes,J.H., 1990

Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
NEJM 322:28-32, 541990., Krivit,W.,et al, 1990

MR Findings in Globoid Cell Leucodystrophy
Neuroradiology 32:520-522, Demaerel,Ph.,et al, 1990

MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 1989



Showing articles 50 to 100 of 151 << Previous Next >>