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Differential
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anterior horn cell disease
areflexia
carbidopa
cerebellar ataxia, hereditary
cerebellar ataxia, primary
cerebellar degeneration
cerebrovascular accident
cerebrovascular accident, familial occurrence
children
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chromosome 5
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degenerative diseases of CNS
developmental retardation
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echolalia
enzyme, defect
facial weakness, bilateral
familial
fasciculation
gene
genetic counselling
genetic neurologic disorders
genetic screening
genetic testing
Gilles de la Tourette syndrome
headbanging
human genome
hydroxytryptophan L-5(L-5 HTP)
hyporeflexia
hypotonia
hypotonia, infants
Lesch-Nyhan syndrome
molecular genetics
mortality
motor neuron disease
MRI
MRI, abnormal
muscle atrophy, progressive
muscle wasting, diffuse
muscle weakness
muscle weakness, proximal
neurologic disease, diagnoses of
neuronal degeneration
nusinersen
patient information and support
pregnancy, neurologic complications in
prognosis
progressive neurologic disorder
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review article
scoliosis
scoliosis, neurologic association with
screening
self-mutilation
SMN1 gene
spinal cord
spinal cord degeneration
spinal muscular atrophy
spinal muscular atrophy, adult onset
spinal muscular atrophy, classification
spinal muscular atrophy, intermediate form
spinocerebellar ataxia
spinocerebellar ataxia type 5
survival motor neuron gene
tongue, fasciculations of
treatment of neurologic disorder
weakness
weakness, generalized
weakness, progressive
Showing articles 950 to 1000 of 1431 << Previous Next >>

Tangier Disease in a Black Patient:An Unusual Clinical Presentation
Am J Med 89:105-108, Lo,W.D.,et al, 1990

Epilepsy Octet, Epidemiology, Classification, Natural History, and Genetics of Epilepsy
Lancet 336:93-96, Shorvon,S.D., 1990

Hyperostosis Cranialis Interna
NEJM 322:450-463, Manni,J.J.,et al, 1990

Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990

The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
Neurol 40:66-69, Nygaard,T.G.,et al, 1990

A Large Kindred with Autosomal Dominant Parkinson's Disease
Ann Neurol 27:276-282, Golbe,L.I.,et al, 1990

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

Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990

Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
Ann Int Med 113:39-52, Mulvihill,J.J.,et al, 1990

Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
JNNP 53:644-648, Boughey,A.M.,et al, 1990

Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
Stroke 21:633-636, Cros,D.,et al, 1990

Genetic Testing for Huntington's Disease
BMJ 300:1089-1090, Harper,P.,et al, 1990

Progress in Tuberous Sclerosis
Editorial, Lancet 336:598-5991990., , 1990

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

Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
Stroke 21:291-294, Ryu,S.J., 1990

Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990

The Dystonias
BMJ 300:139-144, Marsden,C.D.&Quinn,N.P., 1990

Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990

Transmission and Age-At-Onset Patterns in Familial Alzheimer's Disease:Evidence for Heterogeneity
Neurol 40:395-403, Farrer,L.A.,et al, 1990

Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990

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

Inherited Human Prion Diseases
Neurol 40:1820-1827, Hsiao,K.&Prusiner,S.B., 1990

Familial Creutzfeldt-Jakob Disease without Periodic EEG Activity
Ann Neurol 28:585-588, Tietjen,G.E.&Drury,I., 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

X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
Arch Neurol 47:1117-1120, Warner,C.L.,et al, 1990

The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990

Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990

Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990

Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989

Paroxysmal Cerebellar Ataxia
Aust NZ J Med 19:113-117, Feeney,G.F.&Boyle,R.S., 1989

Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989

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

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989

Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 1989

Familial Patterns of Narcolepsy
lancet 2:1376-1379, Guilleminault,C.,et al, 1989

Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989

Tourette's Syndrome:Current Concepts
Neurol 39:1625-1630, Kurland,R., 1989

Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
Am J Med 87:481-483, Panegyres,P.K.,et al, 1989

Familial Idiopathic Striopallidodentate Calcifications
Neurol 39:381-385, Ellie,E.,et al, 1989

Occurrence of Both Neurofibromatosis 1 and 2 in the Same Individual with a Rapidly Progressive Course
Neurol 39:282-283, Sadeh,M.,et al, 1989

Hereditary Sensory Neuropathy with Deafness:A Familial Multisystem Atrophy
Neurol 39:244-248, Horoupian,D.S., 1989

Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989

Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989

Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
Neurol 39:487-492, Baptiste,M.,et al, 1989

The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
Am J Dis Child 143:717-719, Obringer,A.C.,et al, 1989

Adrenoleukodystrophy
JAMA 262:1504-1506, Ladenson,P.W., 1989

Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
Ann Neurol 25:514-516, Gospe,S.M.&Choy,M., 1989

Problems in Genetic Prediction for Huntington's Disease
Lancet 2:601-603, Morris,M.J.,et al, 1989



Showing articles 950 to 1000 of 1431 << Previous Next >>