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survival motor neuron gene
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weakness, generalized
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Showing articles 800 to 850 of 1456 << Previous Next >>

Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993

Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993

Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993

Copper-Histidine Therapy for Menkes Disease
J Pediatr 123:828-830, Sarkar,B.,et al, 1993

The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993

Postmarketing Study of Cardiovascular Adverse Reactions Associated with Sumatriptan
BMJ 307:1185, Ottervanger,J.P.,et al, 1993

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993

Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993

X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
Lancet 342:1197-1200, Murphy,D.G.M.,et al, 1993

Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993

The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

A Neurological Gene Map
Arch Neurol 50:1269-1271, Rosenberg,R.N., 1993

Drug Therapy of Migraine
NEJM 329:1476-1483, Welch,K.M.A., 1993

Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene
JAMA 270:2321-2325, Babul,R.,et al, 1993

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

Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993

Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
BMJ 306:357-360, 3491993., Bradley,D.M.,et al, 1993

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993

Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993

Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993

Infectious Prions or Cytotoxic Metabolites?
Lancet 341:159-161, Pablos-Mendez,A.,et al, 1993

Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993

Sumatriptan
Lancet 341:221-224, Bateman,D.N., 1993

Aicardi's Syndrome:MR Appearance of Unusual Orbital and Ventricular Cystic Lesions
AJR 160:601-603, Mehta,r.C.,et al, 1993

Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993

Tourette's Syndrome in Monozygotic Twins:Relationship of Tic Severity to Neuropsychological Function
Arch Neurol 50:725-728, Randolph,C.,et al, 1993

Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993

The Photic Sneeze Reflex:Literature Review and Discussion
Neurol 43:868-871, Whitman,B.W.&Packer,R.J., 1993

The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993

Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,et al, 1993

Tibial Muscular Dystrophy
Arch Neurol 50:604-608, Udd,B.,et al, 1993

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

Brief Report:Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
NEJM 329:921-925, 9601993., Muntoni,F.,et al, 1993

Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993

Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
Ann Neurol 33:652-655, Matthews,P.M.,et al, 1993

Sumatriptan and Chest Pain
Lancet 341:1564-1565, Hillis,W.S.&MacIntyre,P.D., 1993

Transmural Myocardial Infarction with Sumatriptan
Lancet 341:861-862, Ottervanger,J.P.,et al, 1993

Efficacy of Subcutaneous Sumatriptan in Repeated Episodes of Migraine
Neurol 43:1363-1368, Cady,R.K.,et al, 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

Identical Twins with Similar Onset of Parkinson's Disease:A Case Report
Neurol 43:1159-1161, Pahwa,R.,et al, 1993

Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
Neurol 43:1355-1360, Ronen,G.M.,et al, 1993

Sumatriptan for Migraine
The Medical Letter, 34:91-931992., , 1992

Dose Ranging Efficacy & Safety of Subcut Sumatriptan in Acute Treat of Migraine
Arch Neurol 49:1271-1276, Mathew,N.T.,et al, 1992

Sumatriptan:Efficacy and Contribution to Migraine Mechanisms
JNNP 55:1103-1105, Pearce,J.M.S., 1992

Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992

Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992

Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
Neurol 42:897-902, Nevile,H.E.,et al, 1992



Showing articles 800 to 850 of 1456 << Previous Next >>