Search Results - "Lines, Matthew"

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy by Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, Lines, Matthew A

“…Mitochondrial fission and fusion are dynamic processes vital to mitochondrial quality control and the maintenance of cellular respiration. In dividing…”
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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly by Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

“…Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a…”
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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit by Daoud, Hussein, Luco, Stephanie M, Li, Rui, Bareke, Eric, Beaulieu, Chandree, Jarinova, Olga, Carson, Nancy, Nikkel, Sarah M, Graham, Gail E, Richer, Julie, Armour, Christine, Bulman, Dennis E, Chakraborty, Pranesh, Geraghty, Michael, Lines, Matthew A, Lacaze-Masmonteil, Thierry, Majewski, Jacek, Boycott, Kym M, Dyment, David A

“…Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU)…”
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Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53 by Beauchamp, Marie-Claude, Djedid, Anissa, Bareke, Eric, Merkuri, Fjodor, Aber, Rachel, Tam, Annie S, Lines, Matthew A, Boycott, Kym M, Stirling, Peter C, Fish, Jennifer L, Majewski, Jacek, Jerome-Majewska, Loydie A

“…Abstract EFTUD2 is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We generated a mutant mouse line with conditional mutation in…”
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De novo substitutions of TRPM3 cause intellectual disability and epilepsy by Dyment, David A, Terhal, Paulien A, Rustad, Cecilie F, Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A Micheil, Lines, Matthew A

“…The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic encephalopathies frequently associated with rare de novo…”
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A new automated tool to quantify nucleoid distribution within mitochondrial networks by Ilamathi, Hema Saranya, Ouellet, Mathieu, Sabouny, Rasha, Desrochers-Goyette, Justine, Lines, Matthew A., Pfeffer, Gerald, Shutt, Timothy E., Germain, Marc

“…Mitochondrial DNA (mtDNA) maintenance is essential to sustain a functionally healthy population of mitochondria within cells. Proper mtDNA replication and…”
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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations by Assoum, Mirna, Lines, Matthew A., Elpeleg, Orly, Darmency, Véronique, Whiting, Sharon, Edvardson, Simon, Devinsky, Orrin, Heinzen, Erin, Hernan, Rebecca Rose, Antignac, Corinne, Deleuze, Jean‐François, Des Portes, Vincent, Bertholet‐Thomas, Aurélie, Belot, Alexandre, Geller, Eric, Lemesle, Martine, Duffourd, Yannis, Thauvin‐Robinet, Christel, Thevenon, Julien, Chung, Wendy, Lowenstein, Daniel H., Faivre, Laurence

“…De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with…”
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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia by Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane‐Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh‐Lough, Hana, Tran‐Mau‐Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, Sainte Agathe, Jean‐Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.

“…TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons…”
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Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling by Glinton, Kevin E., Benke, Paul J., Lines, Matthew A., Geraghty, Michael T., Chakraborty, Pranesh, Al-Dirbashi, Osama Y., Jiang, Yi, Kennedy, Adam D., Grotewiel, Michael S., Sutton, V. Reid, Elsea, Sarah H., El-Hattab, Ayman W.

“…Serine biosynthesis defects are autosomal recessive metabolic disorders resulting from the deficiency of any of the three enzymes involved in de novo serine…”
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Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome by Balci, Tugce B., Davila, Jorge, Lewis, Denice, Boafo, Addo, Sell, Erick, Richer, Julie, Nikkel, Sarah M., Armour, Christine M., Tomiak, Eva, Lines, Matthew A., Sawyer, Sarah L.

“…White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features…”
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PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only by Benner, Anne, Alhaidan, Yazeid, Lines, Matthew A., Brusgaard, Klaus, De Leon, Diva D., Sparkes, Rebecca, Frederiksen, Anja L., Christesen, Henrik T.

“…Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with…”
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Autosomal dominant transmission of transient neonatal lactic acidosis: a case report by Mardian, Emily B, Lines, Matthew A, Moore, Gregory P

“…Lactic acidosis is a common finding in neonates, in whom mitochondrial dysfunction is often secondary to tissue hypoperfusion, respiratory failure, and/or…”
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Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing by Lines, Matthew A, Jobling, Rebekah, Brady, Lauren, Marshall, Christian R, Scherer, Stephen W, Rodriguez, Amadeo R, Lee, Liesly, Lang, Anthony E, Mestre, Tiago A, Wanders, Ronald J.A, Ferdinandusse, Sacha, Tarnopolsky, Mark A

“…OBJECTIVE:To determine the causative genetic lesion in 3 adult siblings with a slowly progressive, juvenile-onset phenotype comprising cerebellar atrophy and…”
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Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation by Ilamathi, Hema Saranya, Benhammouda, Sara, Lounas, Amel, Al-Naemi, Khalid, Desrochers-Goyette, Justine, Lines, Matthew A., Richard, François J., Vogel, Jackie, Germain, Marc

“…Mitochondria are multifaceted organelles crucial for cellular homeostasis that contain their own genome. Mitochondrial DNA (mtDNA) replication is a spatially…”
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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency by Lines, Matthew A, Cuillerier, Alexanne, Chakraborty, Pranesh, Naas, Turaya, Duque Lasio, M Laura, Michaud, Jean, Pileggi, Chantal, Harper, Mary-Ellen, Burelle, Yan, Toler, Tomi L, Sondheimer, Neal, Crawford, Heather P, Millan, Francisca, Geraghty, Michael T

“…Mitochondrial disorders are a heterogeneous group of rare, degenerative multisystem disorders affecting the cell's core bioenergetic and signalling functions…”
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Yunis-Varón syndrome caused by biallelic VAC14 mutations by Lines, Matthew A, Ito, Yoko, Kernohan, Kristin D, Mears, Wendy, Hurteau-Miller, Julie, Venkateswaran, Sunita, Ward, Leanne, Khatchadourian, Karine, McClintock, Jeff, Bhola, Priya, Campeau, Philippe M, Boycott, Kym M, Michaud, Jean, van Kuilenburg, André Bp, Ferdinandusse, Sacha, Dyment, David A

“…Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic…”
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Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import by Zhao, Tian, Goedhart, Caitlin, Pfeffer, Gerald, Greenway, Steven C, Lines, Matthew, Khan, Aneal, Innes, A Micheil, Shutt, Timothy E

“…Mitochondrial disease represents a collection of rare genetic disorders caused by mitochondrial dysfunction. These disorders can be quite complex and…”
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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance by Almannai, Mohammed, Wang, Julia, Dai, Hongzheng, El-Hattab, Ayman W., Faqeih, Eissa A., Saleh, Mohammed A., Al Asmari, Ali, Alwadei, Ali H., Aljadhai, Yaser I., AlHashem, Amal, Tabarki, Brahim, Lines, Matthew A., Grange, Dorothy K., Benini, Ruba, Alsaman, Abdulaziz S., Mahmoud, Adel, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun C.

“…An increasing number of mitochondrial diseases are found to be caused by pathogenic variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2…”
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Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation by Marcadier, Julien L, Boland, Margaret, Scott, C Ronald, Issa, Kheirie, Wu, Zaining, McIntyre, Adam D, Hegele, Robert A, Geraghty, Michael T, Lines, Matthew A

“…Congenital sucrase-isomaltase deficiency is a rare hereditary cause of chronic diarrhea in children. People with this condition lack the intestinal…”
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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia by Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M

“…Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor…”
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