Search Results - "Lynch, Bryan"

Device thrombogenicity emulation: a novel method for optimizing mechanical circulatory support device thromboresistance by Girdhar, Gaurav, Xenos, Michalis, Alemu, Yared, Chiu, Wei-Che, Lynch, Bryan E, Jesty, Jolyon, Einav, Shmuel, Slepian, Marvin J, Bluestein, Danny

“…Mechanical circulatory support (MCS) devices provide both short and long term hemodynamic support for advanced heart failure patients. Unfortunately these…”
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RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood by Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M., Vezyroglou, Aikaterini, Møller, Rikke S., King, Mary D., Hammer, Trine Bjørg, Spaull, Robert, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., Sanchis-Juan, Alba, Basu, Anna, Raymond, F. Lucy, Lynch, Bryan J., Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah, Sisodiya, Sanjay M., Kurian, Manju A.

“…To explore the phenotypic spectrum of -related disorders and specifically to determine whether patients fulfill criteria for alternating hemiplegia of…”
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Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion by Allen, Nicholas M., Conroy, Judith, Shahwan, Amre, Lynch, Bryan, Correa, Raony G., Pena, Sergio D. J., McCreary, Dara, Magalhães, Tiago R., Ennis, Sean, Lynch, Sally A., King, Mary D.

“…Summary Early onset epileptic encephalopathies (EOEEs) represent a significant diagnostic challenge. Newer genomic approaches have begun to elucidate an…”
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Everolimus precision therapy for the GATOR1-related epilepsies: A case series by Moloney, Patrick B, Kearney, Hugh, Benson, Katherine A, Costello, Daniel J, Cavalleri, Gianpiero L, Gorman, Kathleen M, Lynch, Bryan J, Delanty, Norman

“…Pathogenic variants in the GAP activity towards RAGs 1 (GATOR1) complex genes (DEPDC5, NPRL2, NPRL3) cause focal epilepsy through hyperactivation of the…”
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The variable phenotypes of KCNQ‐related epilepsy by Allen, Nicholas M., Mannion, Maria, Conroy, Judith, Lynch, Sally A., Shahwan, Amre, Lynch, Bryan, King, Mary D.

“…Summary Mutations in KCNQ2 and KCNQ3 were originally described in infants with benign familial neonatal seizures (BFNS). Recently, KCNQ2 mutations have also…”
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Neurological involvement in children with hemolytic uremic syndrome by Costigan, Caoimhe, Raftery, Tara, Carroll, Anne G., Wildes, Dermot, Reynolds, Claire, Cunney, Robert, Dolan, Niamh, Drew, Richard J., Lynch, Bryan J., O’Rourke, Declan J., Stack, Maria, Sweeney, Clodagh, Shahwan, Amre, Twomey, Eilish, Waldron, Mary, Riordan, Michael, Awan, Atif, Gorman, Kathleen M.

“…Our objective was to establish the rate of neurological involvement in Shiga toxin-producing Escherichia coli –hemolytic uremic syndrome (STEC-HUS) and…”
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P496 X- linked infantile spinal muscular atrophy (smax2) caused by novel c.1681g>a substitution in the uba1 gene, expanding the phenotype by Shaughnessy, Niamh, Forman, Eva B, Rourke, Declan O’, Lynch, Sally Ann, Bryan, Lynch

“…AimsWe report the case of a male infant who presented following a normal pregnancy with typical symptoms of X-linked infantile spinal muscular atrophy…”
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Catheter-based system for the treatment of left ventricular assist device thrombosis by Joyce, David L, Lynch, Bryan E, Freed, Julie, Kreuziger, Lisa Baumann, Salinger, Michael H, Joyce, Lyle D

“…Thrombotic complications continue to pose challenges to patients on left ventricular assist device (LVAD) support. The Hoplon system was developed to…”
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Does early treatment improve outcomes in N‐methyl‐d‐aspartate receptor encephalitis? by Byrne, Susan, McCoy, Blathanid, Lynch, Bryan, Webb, David, King, Mary D

“…N‐methyl‐d‐aspartate (NMDA) receptor encephalitis is a treatable cause of autoimmune encephalitis in both children and adults. It is still unclear if the…”
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SGCE mutations cause psychiatric disorders: clinical and genetic characterization by PEALL, Kathryn J, SMITH, Daniel J, WHITE, Cathy, LUX, Andrew, JARDINE, Philip, BAJAJ, Narinder, LYNCH, Bryan, KIROV, George, O'RIORDAN, Sean, SAMUEL, Michael, LYNCH, Timothy, KING, Mary D, KURIAN, Manju A, CHINNERY, Patrick F, WARNER, Thomas T, BLAKE, Derek J, OWEN, Michael J, MORRIS, Huw R, WARDLE, Mark, WAITE, Adrian J, HEDDERLY, Tammy, LIN, Jean-Pierre, SMITH, Martin, WHONE, Alan, PALL, Hardev

“…Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and…”
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Novel European SLC1A4 variant: infantile spasms and population ancestry analysis by Conroy, Judith, Allen, Nicholas M, Gorman, Kathleen, O'Halloran, Eoghan, Shahwan, Amre, Lynch, Bryan, Lynch, Sally A, Ennis, Sean, King, Mary D

“…SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin…”
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SILENCE IS ANYTHING BUT GOLDEN: LAWS OF GENERAL APPLICABILITY IN INDIAN COUNTRY by Lynch, Bryan R.

“…On July 8, 2012, Theresa Carsten was employed by the Inter-Tribal Council of Nevada ("ITCN"), a non-profit organization made up of twentysix federally…”
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Status dystonicus due to missense variant in ARX: Diagnosis and management by Gorman, Kathleen M., Cary, Heather, Gaffney, Laura, Forman, Eva, Waldron, Dympna, Al-Delami, Fowzy, Lynch, Bryan J., King, Mary D., Allen, Nicholas M.

“…Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement…”
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Quality improvement project to decrease unnecessary investigations in infants with bronchiolitis in Cork University Hospital by Jansen, Lizeri, Meyer, Gideon-Phil, Curtin, Glenn, Lynch, Bryan, O’Brien, Rory

“…BackgroundBronchiolitis is a common reason for infants to present to the emergency department (ED). Clear evidence-based guidelines exist that recommend…”
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Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum by Peall, Kathryn J, Lumsden, Daniel, Kneen, Rachel, Madhu, Rajesh, Peake, Deirdre, Gibbon, Frances, Lewis, Hilary, Hedderly, Tammy, Meyer, Esther, Robb, Stephanie A, Lynch, Bryan, King, Mary D, Lin, Jean‐Pierre, Morris, Huw R, Jungbluth, Heinz, Kurian, Manju A

“…Aim Benign hereditary chorea is a dominantly inherited, childhood‐onset hyperkinetic movement disorder characterized by non‐progressive chorea and variable…”
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The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy by BRUNKLAUS, ANDREAS, DORRIS, LIAM, ELLIS, RACHAEL, REAVEY, ELEANOR, LEE, ELIZABETH, FORBES, GORDON, APPLETON, RICHARD, CROSS, J HELEN, FERRIE, COLIN, HUGHES, IMELDA, JOLLANDS, ALICE, KING, MARY D, LIVINGSTON, JOHN, LYNCH, BRYAN, PHILIP, SUNNY, SCHEFFER, INGRID E, WILLIAMS, RUTH, ZUBERI, SAMEER M

“…Aim  Genetic testing in the epilepsies is becoming an increasingly accessible clinical tool. Mutations in the sodium channel alpha 1 subunit (SCN1A) gene are…”
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Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia by Schaefer, Natascha, Kluck, Christoph J, Price, Kerry L, Meiselbach, Heike, Vornberger, Nadine, Schwarzinger, Stephan, Hartmann, Stephanie, Langlhofer, Georg, Schulz, Solveig, Schlegel, Nadja, Brockmann, Knut, Lynch, Bryan, Becker, Cord-Michael, Lummis, Sarah C R, Villmann, Carmen

“…Recent studies on the pathogenic mechanisms of recessive hyperekplexia indicate disturbances in glycine receptor (GlyR) α1 biogenesis. Here, we examine the…”
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Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study by Sabanathan, Saraswathy, Abdel‐Mannan, Omar, Mankad, Kshitij, Siddiqui, Ata, Das, Krishna, Carr, Lucinda, Eltze, Christin, Eyre, Michael, Gadian, Jon, Hemingway, Cheryl, Kaliakatsos, Marios, Kneen, Rachel, Krishnakumar, Deepa, Lynch, Bryan, Parida, Amitav, Rossor, Thomas, Taylor, Micheal, Wassmer, Evangeline, Wright, Sukhvir, Lim, Ming, Hacohen, Yael

“…Objectives To describe the clinical presentation, investigations, management, and disease course in pediatric autoimmune limbic encephalitis (LE). Methods In…”
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Limbic Encephalitis in a Boy with N-Methyl-D-Aspartate Receptor Antibodies by Allen, Nicholas M., MD, Lynch, Bryan, MD, Twomey, Eilish, MD

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Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient by Greer, Kane, Mizzi, Kayla, Rice, Emily, Kuster, Lukas, Barrero, Roberto A., Bellgard, Matthew I., Lynch, Bryan J., Foley, Aileen Reghan, O Rathallaigh, Eoin, Wilton, Steve D., Fletcher, Sue

“…We report a dystrophinopathy patient with an in‐frame deletion of DMD exons 45–47, and therefore a genetic diagnosis of Becker muscular dystrophy, who…”
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