McArdle's Disease:Biochemical and Molecular Genetic Studies
Ann Neurol 24:774-781, Servidei,S.,et al, 1988

The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988

Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988

Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988

Neurofibromatosis
Conference Statement, National Institutes of Health Consensus Development Conference, Arch Neurol 45, 57578,1988., 1988

Postmenopausal Oestrogen Treatment and Stroke:A Prospective Study
BMJ 297:519-522, Paganini-Hill,A.,et al, 1988

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

False Negative Results in Patients with fra (X) (q) Mental Retardation Taking Oral Vitamin Supplements
NEJM 316:1093, Froster-Iskenius,U.,et al, 1987

Essential Tremor:A Review
Neurol 37:1194-1197, Findley,L.J.&Koller,W.C., 1987

Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987

Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987

Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987

A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987

Benign Sexual Headach within a Family
Arch Neurol 43:1158-1160, Johns,D.R., 1986

Alzheimer's Disease
NEJM 314:964-973, Katzman,R., 1986

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Gilles de la Tourette's Syndrome, A Review of Clinical, Research & Future Directions for Investigation
Arch Neurol 42:393-397, Caine,E.D., 1985

Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
NEJM 313:16-19, 43-441985., Wolf,B.,et al, 1985

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

Wilson's Disease
BMJ 288:1180-1181, Parkes,D., 1984

Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984

Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983

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

Familial Porencephaly
Arch Neurol 40:567-569, Berg,R.A.,et al, 1983

Familial Paroxysmal Dystonic Choreoathetosis & Response to Alternate-Day Oxazepam Therapy
Ann Neurol 13:456-457, Kurlan,R.,et al, 1983

Infection of Collagenase in the Treatment of Herniated Lumbar Disk
JAMA 245:730-732, Sussman,B.J.,et al, 1981

Adrenoleukodystrophy. Report of Two Cases With Relapsing & Remitting Courses
Arch Neurol 37:448-450, Walsh,R., 1980

Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980

Successful Treatment of Paramyotonia Congenita (Eulenburg) Muscle Stiffness & Weakness Prevented by Tocainide
JNNP 43:268-271, Ricker,K.,et al, 1980

Abetalipoproteinemia, Report of Two Cases & Review of Therapy
Arch Neurol 37:659-662, Illingworth,D.R.,et al, 1980

Lidase Treatment of Spinal Cord Transected Rats
Ann Neurol 6:78-79, Kowalski,T.F.,et al, 1979

Enzyme Treatment of Spinal Cord Transected Rats
Ann Neurol 5:203-206, Feringa,E.R.,et al, 1979

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

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

Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978

Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978

Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
Ann Neurol 2:285, Lance,J.W., 1977

Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977

Cause of Weakness in Myasthenia Gravis
NEJM 294:722, Grob,D., 1976

Unrecognized Adult Phenylketonuria
NEJM 289:395, 1973, 289:1040, 1973, 290:1084., Perry,T.,et al, 1974

Treating Problem Children with Stimulant Drugs
NEJM 289:407, Sroufe,L.A.,et al, 1973

Teratogenic Effect of Anticonvulsnats
Lancet 198, 1973 Jan., , 1973

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

Maternal Epilepsy & Abnormalities of the Fetus & Newborn
Lancet 839, Oct1972., Speidel,B.,et al, 1972

Targeting Orexin Receptors to Treat Narcolepsy
NEJM 392:1968-1971, Saper,C.B., 2025

Progress Toward Mitigating Disability Progression in Multiple Sclerosis
NEJM 392:1966-1968, Calabresi,P.A., 2025

A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025

Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025