Search Results - "Debrosse, D."

Mutations in SCN3A cause early infantile epileptic encephalopathy by Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.

“…Objective Voltage‐gated sodium (Na+) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in…”
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Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation by Yano, Sho T., MD, PhD, Silver, Kenneth, MD, Young, Richard, MD, DeBrosse, Suzanne D., MD, Ebel, Roseànne S., MS, Swoboda, Kathryn J., MD, Acsadi, Gyula, MD, PhD

“…Structured Abstract Objectives We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype distinct from alternating…”
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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy by Yoo, Yongjin, Jung, Jane, Lee, Yoo‐Na, Lee, Youngha, Cho, Hyosuk, Na, Eunjung, Hong, JeaYeok, Kim, Eunjin, Lee, Jin Sook, Lee, Je Sang, Hong, Chansik, Park, Sang‐Yoon, Wie, Jinhong, Miller, Kathryn, Shur, Natasha, Clow, Cheryl, Ebel, Roseànne S., DeBrosse, Suzanne D., Henderson, Lindsay B., Willaert, Rebecca, Castaldi, Christopher, Tikhonova, Irina, Bilgüvar, Kaya, Mane, Shrikant, Kim, Ki Joong, Hwang, Yong Seung, Lee, Seok‐Geun, So, Insuk, Lim, Byung Chan, Choi, Hee‐Jung, Seong, Jae Young, Shin, Yong Beom, Jung, Hosung, Chae, Jong‐Hee, Choi, Murim

“…Objective Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly…”
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Results of thoracoscopic pleural abrasion for primary spontaneous pneumothorax by GOSSOT, D, GALETTA, D, STERN, J. B, DEBROSSE, D, CALIANDRO, R, GIRARD, P, GRUNENWALD, D

“…Several video-assisted techniques have been used to treat primary spontaneous pneumothorax (PSP). The aim of this study was to evaluate the results of…”
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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency by Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.

“…Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and…”
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Thoracoscopic palliative treatment of malignant pleural effusions : Results in 273 patients by ARAPIS, K, CALIANDRO, R, STERN, J.-B, GIRARD, P, DEBROSSE, D, GOSSOT, D

“…The aim of this study was to analyze the results of pleurodesis for malignant pleural effusion performed by surgeons. A series of 273 patients with malignant…”
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Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management by Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell

“…Mitochondrial medicine is a young subspecialty. Clinicians have limited evidence-based guidelines on which to formulate clinical decisions regarding diagnosis,…”
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Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism by Schillaci, Lori-Anne P, DeBrosse, Suzanne D, McCandless, Shawn E

“…When a child presents with high-anion gap metabolic acidosis, the pediatrician can proceed with confidence by recalling some basic principles. Defects of…”
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A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia by Higinbotham, Alissa S., DeBrosse, Suzanne D., Kilbane, Camilla W.

“…Background: Epsilon-sarcoglycan (SGCE) myoclonus-dystonia is autosomal dominant (AD) with reduced penetrance due to maternal imprinting 95% of the time…”
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Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype by DeBrosse, Suzanne D., Okajima, Kazuki, Zhang, Shulin, Nakouzi, Ghunwa, Schmotzer, Christine L., Lusk-Kopp, Marilyn, Frohnapfel, Mary Beth, Grahame, George, Kerr, Douglas S.

“…Pyruvate dehydrogenase complex (PDC) deficiency is a relatively common mitochondrial disorder that primarily presents with neurological manifestations and…”
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Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry by Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J, Newcomb, Tara M, Reyna, Sandra P, Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L, Brown, Candida, Brunkow, Mary E, Chugani, Harry T, Cheyette, Sarah R, Collins, Abigail, DeBrosse, Suzanne D, Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B, King, Mary D, LaSalle, Bernie, Leventer, Richard J, Lewelt, Aga J, Massart, Mylynda B, Mérida, 2nd, Mario R, Ptáček, Louis J, Roach, Jared C, Rust, Robert S, Renault, Francis, Sanger, Terry D, Sotero de Menezes, Marcio A, Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J

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Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency by Bedoyan, Jirair K., Yang, Samuel P., Ferdinandusse, Sacha, Jack, Rhona M., Miron, Alexander, Grahame, George, DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Wanders, Ronald J.A.

“…Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine…”
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Thoracoscopic removal of neurogenic mediastinal tumors: Technical aspects by ARAPIS, C, GOSSOT, D, DEBROSSE, D, ARPER, L, MAZEL, C, GRUNENWALD, D

“…Thoracoscopy is fast becoming the standard approach for the removal of neurogenic mediastinal tumors. However, there are risks for adjacent nervous structures…”
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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion by Huang, Xiaoping, Bedoyan, Jirair K., Demirbas, Didem, Harris, David J., Miron, Alexander, Edelheit, Simone, Grahame, George, DeBrosse, Suzanne D., Wong, Lee-Jun, Hoppel, Charles L., Kerr, Douglas S., Anselm, Irina, Berry, Gerard T.

“…Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid…”
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Totally endoscopic major pulmonary resection for stage I bronchial carcinoma: initial results by Gossot, D, Girard, P, Raynaud, C, Stern, J-B, Caliandro, R, Validire, P, Debrosse, D, Magdeleinat, P

“…Several series of video-assisted (VATS) major pulmonary resection (MPR) for non small cell bronchial carcinoma (NSCBC) have been published recently. However,…”
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Mitochondrial diseases in North America: An analysis of the NAMDC Registry by Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio

“…To describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mitochondrial Disease…”
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Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN) by Gore, Ethan, Appleby, Brian S., Cohen, Mark L., DeBrosse, Suzanne D., Leverenz, James B., Miller, Bruce L., Siedlak, Sandra L., Zhu, Xiongwei, Lerner, Alan J.

“…Young onset dementias present significant diagnostic challenges. We present the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness,…”
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Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges by Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell, Anselm, Irina, Collins, Abigail, Cohen, Bruce H, DeBrosse, Suzanne D, Dimmock, David, Falk, Marni J, Ganesh, Jaya, Greene, Carol, Gropman, Andrea L, Haas, Richard, Kahler, Stephen G, Kamholz, John, Kendall, Fran, Korson, Mark S, Mattman, Andre, Milone, Margherita, Niyazov, Dmitriy, Pearl, Phillip L, Reimschisel, Tyler, Salvarinova-Zivkovic, Ramona, Sims, Katherine, Tarnopolsky, Mark, Tsao, Chang-Yong, van Hove, Johan, Walsh, Laurence, Wolfe, Lynne A

“…Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment…”
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Pleural diffusion of amoxicillin 1 and vancomycin in patients treated for post-surgical empyema by Stern, J B, Péan, Y, Girard, P, Kitzis, M D, Caliandro, R, Grima, R, Gossot, D, Debrosse, D, Schussler, O, Magdeleinat, P

“…Treatment of post surgical thoracic empyema consists of chest tube drainage, antibiotic administration, and in some cases surgical lavage of infected spaces…”
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Prognostic value of T and N in non small cell lung cancer three centimeters or less in diameter by RIQUET, M, MANAC'H, D, LE PIMPEC BARTHES, F, DUJON, A, DEBROSSE, D, DEBESSE, B

“…OBJECTIVE: Peripheral tumors 3 cm or less in diameter are classified T1,T2 when rupturing the visceral pleura, T3 when invading parietal pleura,chest wall,…”
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