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Showing articles 0 to 42 of 42

Filter Applied: genetic neurologic disorders (Click to remove)

Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021

A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019

Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995

Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990

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

Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017

Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014

Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007

Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006

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

SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001

Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001

Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999

Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Benign Familial Disease with Muscle Mounding and Rippling
JNNP 57:344-347, Burns,R.J.,et al, 1994

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

Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991

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

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

Autosomal Dominant Cramping Disease
Arch Neurol 47:810-812, Ricker,K.&Moxley,R.T., 1990

Familial X-linked Myalgia and Cramps:A Nonprogressive Myopathy Associated with a Deletion in the Dystrophin Gene
Neurol 39:1277-1280, Gospe,S.M.,et al, 1989

Von Hippel-Lindau Disease in an Adolescent
Pediatrics 79:632-637, Seitz,M.L.,et al, 1987

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

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

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

Clin. Path. Conference
Coproporphyria with Polyneuropathy, Case Record 39-1984, NEJM 311:839-847984., , 1984

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Cylindrical Spirals in a Familial Neuromuscular Disorder
Ann Neurol 7:550-556, Bove,K.E.,et al, 1980

Myotonic Dystrophy
In Harrison's Principles of Internal Medicine, 9th Ed, McGraw-Hill Book Co, NY 206180., Adams,R.D.,et al, 1980

Pseudoxanthoma Elasticum:A Review of Neurological Complications
Ann Neurol 4:18, Iqbal,A.,et al, 1978

Hereditary Quadriceps Myopathy
JNNP 36:1041, Espir,M.L.E.,et al, 1973

Familiar Basilar Impression
Neurol 22:554, Paradis,R.,et al, 1972

Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972

Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964



Showing articles 0 to 42 of 42