Search Results - "Roach, E. S"

Diagnostic criteria for schwannomatosis by MACCOLLIN, M, CHIOCCA, E. A, SANG, C. N, STEMMER-RACHAMIMOV, A, ROACH, E. S, EVANS, D. G, FRIEDMAN, J. M, HORVIT, R, JARAMILLO, D, LEV, M, MAUTNER, V. F, NIIMURA, M, PLOTKIN, S. R

“…The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the nerve sheath. Schwannomatosis…”
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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria by Roach, E S, Gomez, M R, Northrup, H

“…At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex were simplified and revised to…”
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Prolonged hemiplegic episodes in children due to mutations in ATP1A2 by Jen, J C, Klein, A, Boltshauser, E, Cartwright, M S, Roach, E S, Mamsa, H, Baloh, R W

“…Background: Familial hemiplegic migraine (FHM) is an unusual migraine syndrome characterised by recurrent transient attacks of unilateral weakness or paralysis…”
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Renal lesion growth in children with tuberous sclerosis complex by Ewalt, D H, Sheffield, E, Sparagana, S P, Delgado, M R, Roach, E S

“…Renal lesions, including angiomyolipoma, renal cysts (simple and polycystic kidney disease) and renal cell carcinoma, develop in patients with tuberous…”
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A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16 by BENNETT, L. B, ROACH, E. S, BOWCOCK, A. M

“…To use genetic linkage analysis to localize a gene for paroxysmal kinesigenic dyskinesia (PKD) in a three generation African-American kindred. PKD is a rare…”
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Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation by Roach, E.S., DiMario, Francis J., Kandt, Raymond S., Northrup, Hope

“…At the recent Tuberous Sclerosis Consensus Conference, a subcommittee proposed recommendations to guide the rational use of diagnostic studies in patients with…”
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Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex by Al‐Saleem, Tahseen, Wessner, Lisa L., Scheithauer, Bernd W., Patterson, Kathleen, Roach, E. Steven, Dreyer, Stephen J., Fujikawa, Keita, Bjornsson, Johannes, Bernstein, Jay, Henske, Elizabeth Petri

“…BACKGROUND The tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the…”
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Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease by Kandt, R. S, Haines, J. L, Smith, M, Northrup, H, Gardner, R. J. M, Short, M. P, Dumars, K, Roach, E. S, Steingold, S, Wall, S, Blanton, S. H, Flodman, P, Kwiatkowski, D. J, Jewell, A, Weber, J. L, Roses, A. D, Pericak-Vance, M. A

“…Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys…”
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Cerebral Venous Sinus Thrombosis in Children: A Multicenter Cohort From the United States by Wasay, Mohammad, Dai, Alper I., Ansari, Mohsin, Shaikh, Zubair, Roach, E.S.

“…This study presents a large multicenter cohort of children with cerebral venous thrombosis from 5 centers in the United States and analyzes their clinical…”
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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies by Swoboda, K J, Soong, B, McKenna, C, Brunt, E R, Litt, M, Bale, Jr, J F, Ashizawa, T, Bennett, L B, Bowcock, A M, Roach, E S, Gerson, D, Matsuura, T, Heydemann, P T, Nespeca, M P, Jankovic, J, Leppert, M, Ptácek, L J

“…To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions,…”
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Germ-Line Mosaicism in Tuberous Sclerosis: How Common? by Rose, Verna M., Au, Kit-Sing, Pollom, Gretchen, Roach, E. Steve, Prashner, Heather R., Northrup, Hope

“…Two-thirds of cases of tuberous sclerosis complex (TSC) are sporadic and usually are attributed to new mutations, but unaffected parents sometimes have more…”
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Complete Inactivation of the TSC2 Gene Leads to Formation of Hamartomas by Au, Kit-Sing, Hebert, Adelaide A., Roach, E. Steve, Northrup, Hope

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Seeing With New Eyes: Using Positron Emission Tomography (PET) to Identify Epileptogenic Tubers by Roach, E.S.

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Neurocutaneous syndromes by Roach, E S

“…Many of the neurocutaneous disorders are more common than once suspected, in part because patients with milder forms of the disorders are now more likely to be…”
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Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients by Au, Kit-Sing, Rodriguez, Joseph A., Finch, Jennifer L., Volcik, Kelly A., Roach, E. Steve, Delgado, Mauricio R., Rodriguez, Estanislado, Northrup, Hope

“…Ninety patients with tuberous-sclerosis complex (TSC) were tested for subtle mutations in the TSC2 gene, by means of single-strand conformational analysis…”
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Transient global amnesia: look at mechanisms not causes by Roach, E S

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The tuberous sclerosis complex: a comprehensive review by Weiner, DavidM, Ewalt, DavidH, Roach, E.Steve, Hensle, TerryW

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Is neuromyelitis optica a distinct entity? by Roach, E S

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Is multiple sclerosis an autoimmune disorder? by Roach, E S

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Both postsynaptic and presynaptic dysfunction contribute to Parkinson disease: any mechanism will not do by Roach, E S

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