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Filter Applied: genetic neurologic disorders (Click to remove)

Familial Lumbar Spinal Stenosis with Acute Disc Herniation, Case Reports of Four Brothers
J Neurosurg 51:234-236, Varughese,G.,et al, 1979

A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024

A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020

A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017

Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
Adams & Victors Principles of Neurology, Chp 37, pg 959, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

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

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

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

Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995

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

Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993

Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993

Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993

Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993

Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991

Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990

Mitochondrial DNA and Genetic Disease
Editorial, Lancet 1:250-2511989., , 1989

Hereditary Motor & Sensory Neuropathy with Optic Atrophy, Ultrastructural and Morphometic Observations
Arch Neurol 46:973-977, Sommer,C.&Schroder,J.M., 1989

A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989

Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989

Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988

MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984

Familial Multisystem Atrophy with Possible Thalamic Dementia
Neurol 34:1213-1217, Katz,D.A.,et al, 1984

Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982

Progressive Pontobulbar Palsy With Deafness
Arch Neurol 38:186-190, Brucher,J.M.,et al, 1981

Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981

Optic Neuritis in Familial MS
Neurol 31:1138-1142, Ebers,G.C.,et al, 1981

Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980

A Family with Hereditary Ataxia:HLA Typing
Neurol 30:12-20, Nino,H.E.,et al, 1980

Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980

Leber's Optic Neuropathy
Editorial, BMJ 280:1097-10981980., , 1980

Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
Ann Neurol 6:200-206, Kalimo,H.,et al, 1979

Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978



Showing articles 0 to 50 of 55 Next >>