Search Results - "KRAWIECKI, N"

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency by MUSUMECI, O, NAINI, A, DE VIVO, D. C, HIRANO, M, DIMAURO, S, SLONIM, A. E, SKAVIN, N, HADJIGEORGIOU, G. L, KRAWIECKI, N, WEISSMAN, B. M, TSAO, C.-Y, MENDELL, J. R, SHANSKE, S

“…To describe a clinical syndrome of cerebellar ataxia associated with muscle coenzyme Q10 (CoQ10) deficiency. Muscle CoQ10 deficiency has been reported only in…”
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Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation by Shoffner, J M, Fernhoff, P M, Krawiecki, N S, Caplan, D B, Holt, P J, Koontz, D A, Takei, Y, Newman, N J, Ortiz, R G, Polak, M

“…Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the…”
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Ethical issues surrounding the evaluation of oxidative phosphorylation disorders in children by Krawiecki, N

“…Genetic testing is becoming increasingly frequent as a part of a pediatric evaluation. Oxidative phosphorylation disorders are likewise becoming part of the…”
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Additive Impact of In-hospital Cardiac Arrest on the Functioning of Children With Heart Disease by Bloom, Audrey A, Wright, Jean A, Morris, Robin D, Campbell, Robert M, Krawiecki, Nicolas S

“…This study examined the impact of a sudden cardiac arrest (CA) on the neurodevelopmental and adaptive functioning of young children with congenital heart…”
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Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV by ZHENG, X, SHOFFNER, J. M, LOTT, M. T, VOLJAVEC, A. S, KRAWIECKI, N. S, WINN, K, WALLACE, D. C

“…A child died at 4 months of age of a lethal infantile mitochondrial disease associated with cardiomyopathy. Detailed pathologic evaluation of this patient…”
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Oxidative phosphorylation defect associated with primary adrenal insufficiency by North, Kathryn, Korson, Mark S., Krawiecki, Nicolas, Shoffner, John M., Holm, Ingrid A.

“…An 18-month-old girl with an oxidative phosphorylation defect had neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and…”
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Neuropsychological, Academic, and Adaptive Functioning in Children Who Survive In-Hospital Cardiac Arrest and Resuscitation by Morris, Robin D

“…This study of 25 children, ages 2-15, who survived a cardiac arrest while hospitalized, found that a majority of subjects exhibited low-average to deficient…”
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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) by Engle, Elizabeth C, Yamada, Koki, Andrews, Caroline, Chan, Wai-Man, McKeown, Craig A, Magli, Adriano, de Berardinis, Teresa, Loewenstein, Anat, Lazar, Moshe, O'Keefe, Michael, Letson, Robert, London, Arnold, Ruttum, Mark, Matsumoto, Naomichi, Saito, Nakamichi, Morris, Lisa, Monte, Monte Del, Johnson, Roger H, Uyama, Eiichiro, Houtman, Willem A, de Vries, Berendina, Carlow, Thomas J, Hart, Blaine L, Krawiecki, Nicolas, Shoffner, John, Vogel, Marlene C, Katowitz, James, Goldstein, Scott M, Levin, Alex V, Sener, Emin C, Ozturk, Banu T, Akarsu, A Nurten, Brodsky, Michael C, Hanisch, Frank, Cruse, Robert P, Zubcov, Alina A, Robb, Richard M, Roggenkäemper, Peter, Gottlob, Irene, Kowal, Lionel, Battu, Ravi, Traboulsi, Elias I, Franceschini, Piergiorgio, Newlin, Anna, Demer, Joseph L

“…Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the…”
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Neurodegenerative diseases of infancy and childhood by Dyken, P, Krawiecki, N

“…The neurodegenerative diseases of infancy and childhood include disorders in which there is progressive loss of neurological function due to structural…”
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MR of Leigh's disease (subacute necrotizing encephalomyelopathy) by Davis, PC, Hoffman, JC, Jr, Braun, IF, Ahmann, P, Krawiecki, N

“…MR images of three patients with Leigh's disease (subacute necrotizing encephalomyelopathy) were compared with CT findings. In all patients typical lesions in…”
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Cognitive Predictors of Adaptive Functioning Vary According to Pediatric Brain Tumor Location by Papazoglou, Aimilia, King, Tricia Z., Morris, Robin D., Krawiecki, Nicolas S.

“…This archival study sought to determine if the relationship between cognitive and adaptive abilities varied according to brain tumor location. Participants…”
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Computed tomography of the brain in subacute sclerosing panencephalitis by Krawiecki, N S, Dyken, P R, El Gammal, T, DuRant, R H, Swift, A

“…Twenty-four computed tomographic scans of 12 patients with confirmed subacute sclerosing panencephalitis were studied using standardized techniques of…”
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Oxidative phosphorylation diseases and cerebellar ataxia by Shoffner, J M, Kaufman, A, Koontz, D, Krawiecki, N, Smith, E, Topp, M, Wallace, D C

“…Oxidative phosphorylation (OXPHOS) diseases can be caused by mutations in nuclear genes or mitochondrial DNA (mtDNA) genes. mtDNA mutations include complex…”
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Systematic approach for detection of endocrine disorders in children treated for brain tumors by Meacham, Lillian R., Ghim, Thad T., Crocker, Ian R., O'Brien, Mark S., Petronio, Joseph, Davis, Patricia, Vogel, Beth C., Krawiecki, Nicolas S.

“…Endocrine dysfunction can be challenging to diagnose in children treated for brain tumors. Treatments are available for hormonal replacement and when…”
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Mechanism of transient adrenal insufficiency with megestrol acetate treatment of cachexia in children with cancer by MEACHAM, Lillian R, MAZEWSKI, Claire, KRAWIECKI, Nicolas

“…Megestrol acetate (MA) is used to stimulate appetite in children with cancer, but it can impair adrenal function and cause adrenal insufficiency. Three…”
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A Km mutant of arylsulfatase A by Harben, A M, Krawiecki, N, Marcus, R, Hommes, F A

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Family and illness predictors of outcome in pediatric brain tumors by Carlson-Green, B, Morris, R D, Krawiecki, N

“…Investigated the prediction of cognitive and behavioral outcomes in 63 children with heterogenous brain tumors. Hierarchical multiple regression analyses were…”
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Risk Factors Associated with Long-Term Social and Behavioral Problems Among Children with Brain Tumors by Kullgren, Kristin A., Morris, Robin D., Morris, Mary K., Krawiecki, Nicolas

“…This study investigated long-term social and behavioral outcomes in 40 children with brain tumors. Demographic, medical, cognitive, and psychosocial predictors…”
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Childhood intracranial meningiomas after high-dose irradiation by Ghim, T T, Seo, J J, O'Brien, M, Meacham, L, Crocker, I, Krawiecki, N

“…Irradiation, either alone or in association with other factors, is thought to play a role in the causation of intracranial meningioma. The authors report two…”
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Social problem solving in children with acquired brain injuries by Lewis, J K, Morris, M K, Morris, R D, Krawiecki, N, Foster, M A

“…To assess the performance of children with acquired brain injuries (ABIs) on a measure of social problem solving and to examine the relationships between…”
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