Full Text Journal Articles by
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Association of outcomes in acute flaccid myelitis with identification of enterovirus at presentation: a Canadian, nationwide, longitudinal study.

Carmen Yea, Ari Bitnun, Helen M Branson, Beyza Ciftci-Kavaklioglu, Mubeen F Rafay, Olivier Fortin, Paola Moresoli, Guillaume Sébire, Myriam Srour, Hélène Decaluwe, Louis Marois, Félixe Pelletier, Michelle Barton, Maryam Nabavi Nouri, Jason Brophy, Sunita Venkateswaran, Daniela Pohl, Kathryn Selby, Kevin Jones, Joan Robinson, Aleksandra Mineyko, Christoph Licht, Birgit Ertl-Wagner, E Ann Yeh,

BACKGROUND:Acute flaccid myelitis (AFM) is characterised by rapid onset of limb weakness with spinal cord grey-matter abnormalities on MRI scan. We aimed to assess whether detection of enterovirus in respiratory or other specimens can help predict prognosis in children with AFM. METHODS:In this nationwide, longitudinal study, we evaluated the significance ... Read more >>

Lancet Child Adolesc Health (The Lancet. Child & adolescent health)
[2020, 4(11):828-836]

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sebire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard,

CONTEXT:4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. OBJECTIVE:To systematically characterize endocrine abnormalities of ... Read more >>

J Clin Endocrinol Metab (The Journal of clinical endocrinology and metabolism)
[2020, :]

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingrid P Taff, Mauricio R Delgado, M J Hajianpour, Andrea Seeley, Luis Rohena, Hilary Vernon, Karen W Gripp, Samantha A Vergano, Sonal Mahida, Sakkubai Naidu, Ana Berta Sousa, Karen E Wain, Thomas D Challman, Geoffrey Beek, Donald Basel, Judith Ranells, Rosemarie Smith, Roman Yusupov, Mary-Louise Freckmann, Lisa Ohden, Laura Davis-Keppen, David Chitayat, James J Dowling, Richard Finkel, Andrew Dauber, Rebecca Spillmann, Loren D M Pena, , Kay Metcalfe, Miranda Splitt, Katherine Lachlan, Shane A McKee, Jane Hurst, David R Fitzpatrick, Jenny E V Morton, Helen Cox, Sunita Venkateswaran, Juan I Young, Eric D Marsh, Stanley F Nelson, Julian A Martinez, John M Graham, Usha Kini, Joel P Mackay, Tyler Mark Pierson,

An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(4):822]

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingrid P Taff, Mauricio R Delgado, M J Hajianpour, Andrea Seeley, Luis Rohena, Hilary Vernon, Karen W Gripp, Samantha A Vergano, Sonal Mahida, Sakkubai Naidu, Ana Berta Sousa, Karen E Wain, Thomas D Challman, Geoffrey Beek, Donald Basel, Judith Ranells, Rosemarie Smith, Roman Yusupov, Mary-Louise Freckmann, Lisa Ohden, Laura Davis-Keppen, David Chitayat, James J Dowling, Richard Finkel, Andrew Dauber, Rebecca Spillmann, Loren D M Pena, , Kay Metcalfe, Miranda Splitt, Katherine Lachlan, Shane A McKee, Jane Hurst, David R Fitzpatrick, Jenny E V Morton, Helen Cox, Sunita Venkateswaran, Juan I Young, Eric D Marsh, Stanley F Nelson, Julian A Martinez, John M Graham, Usha Kini, Joel P Mackay, Tyler Mark Pierson,

PURPOSE:Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). METHODS:Fifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vitro transcription-translation products were used to evaluate GATAD2B missense variants' ability to interact with binding partners within the nucleosome remodeling and deacetylase (NuRD) complex. RESULTS:Subjects had clinical ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(5):878-888]

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K Bijlsma, Levinus A Bok, Alwin F J Brouwer, Ineke van der Burgt, Philippe M Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W Y Chu, Brain H Y Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R Heitink, Johanna C Herkert, Nicolette S den Hollander, Denise Horn, David Hunt, Sarina G Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M S Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B Moeschler, Christian Netzer, Charlotte W Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N M Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P Robertson, Maian Roifman, Caroline Rooryck, Fabienne G Ropers, Monica Rosello, Claudia A L Ruivenkamp, Mahmut S Sagiroglu, Suzanne C E H Sallevelt, Amparo Sanchis Calvo, Pelin O Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P A Stegmann, Constance T R M Stumpel, Saori Tanabe, Eyyup Uctepe, G Eda Utine, Hermine E Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T Vulto-van Silfhout, Patricia Wheeler, Golder N Wilson, Louise C Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B A de Vries, Jill Clayton-Smith, Gijs W E Santen,

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article. ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(9):2160-2161]

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Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Melissa T Carter, Sunita Venkateswaran, Gali Shapira-Zaltsberg, Jorge Davila, Peter Humphreys, , Kristin D Kernohan, Kym M Boycott,

The GTPBP2 gene encodes a guanosine triphosphate (GTP)-binding protein of unknown function. Biallelic loss-of-function variants in the GTPBP2 gene have been previously reported in association with a neuro-ectodermal clinical presentation in six individuals from four unrelated families. Here, we provide detailed descriptions of three additional individuals from two unrelated families ... Read more >>

Clin Genet (Clinical genetics)
[2019, 95(5):601-606]

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Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

Kristina M Joyal, Jean Michaud, Marjo S van der Knaap, Marianna Bugiani, Sunita Venkateswaran,

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene. It ... Read more >>

J Neuropathol Exp Neurol (Journal of neuropathology and experimental neurology)
[2019, 78(1):3-9]

Cited: 1 time

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K Bijlsma, Levinus A Bok, Alwin F J Brouwer, Ineke van der Burgt, Philippe M Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W Y Chu, Brain H Y Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R Heitink, Johanna C Herkert, Nicolette S den Hollander, Denise Horn, David Hunt, Sarina G Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M S Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B Moeschler, Christian Netzer, Charlotte W Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N M Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P Robertson, Maian Roifman, Caroline Rooryck, Fabienne G Ropers, Monica Rosello, Claudia A L Ruivenkamp, Mahmut S Sagiroglu, Suzanne C E H Sallevelt, Amparo Sanchis Calvo, Pelin O Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P A Stegmann, Constance T R M Stumpel, Saori Tanabe, Eyyup Uctepe, G Eda Utine, Hermine E Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T Vulto-van Silfhout, Patricia Wheeler, Golder N Wilson, Louise C Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B A de Vries, Jill Clayton-Smith, Gijs W E Santen,

PURPOSE:Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(6):1295-1307]

Cited: 4 times

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Michael D Fountain, David S Oleson, Megan E Rech, Lara Segebrecht, Jill V Hunter, John M McCarthy, Philip J Lupo, Manuel Holtgrewe, Rocio Moran, Jill A Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita S Saenz, Robert C Pedersen, Thomas M Morgan, Jean P Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L Kang, Ankita Patel, Ian D Krantz, Sarah E Raible, Wendy Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M Wentzensen, Richard E Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Munnich, Mieke van Haelst, Klaske D Lichtenbelt, Koen van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise L Perry, Ryan J Taft, Marilyn Jones, Diane Masser-Frye, David Dyment, Sunita Venkateswaran, Chumei Li, Luis F Escobar, Denise Horn, Rebecca C Spillmann, Loren Peña, Jolanta Wierzba, Tim M Strom, Ilaria Parenti, Frank J Kaiser, Nadja Ehmke, Christian P Schaaf,

PURPOSE:Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(8):1797-1807]

Cited: 4 times

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Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy.

Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I Wolf, Kym M Boycott, David A Dyment, Kristin D Kernohan,

Neurol Genet (Neurology. Genetics)
[2018, 4(6):e288]

Cited: 0 times

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Incidence and prevalence of MS in children: A population-based study in Ontario, Canada.

Ruth Ann Marrie, Julia O'Mahony, Colleen Maxwell, Vicki Ling, E Ann Yeh, Douglas L Arnold, Amit Bar-Or, Brenda Banwell, ,

OBJECTIVE:To validate a case definition of multiple sclerosis (MS) in the pediatric population using administrative (health claims) data, and to estimate the incidence and prevalence of MS in the pediatric population for Ontario, Canada. METHODS:We used population-based administrative data to identify persons aged ≤18 years with MS. We assessed the ... Read more >>

Neurology (Neurology)
[2018, 91(17):e1579-e1590]

Cited: 3 times

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Fatty Acid Hydroxylase-Associated Neurodegeneration

Allison Gregory, Sunita Venkateswaran, Susan J Hayflick,

CLINICAL CHARACTERISTICS:Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atrophy, oculomotor abnormalities), and later in the disease course by progressive intellectual impairment and seizures. With disease progression, dystonia ... Read more >>

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Trial of Fingolimod versus Interferon Beta-1a in Pediatric Multiple Sclerosis.

Tanuja Chitnis, Douglas L Arnold, Brenda Banwell, Wolfgang Brück, Angelo Ghezzi, Gavin Giovannoni, Benjamin Greenberg, Lauren Krupp, Kevin Rostásy, Marc Tardieu, Emmanuelle Waubant, Jerry S Wolinsky, Amit Bar-Or, Tracy Stites, Yu Chen, Norman Putzki, Martin Merschhemke, Jutta Gärtner, ,

Treatment of patients younger than 18 years of age with multiple sclerosis has not been adequately examined in randomized trials. We compared fingolimod with interferon beta-1a in this population.In this phase 3 trial, we randomly assigned patients 10 to 17 years of age with relapsing multiple sclerosis in a 1:1 ... Read more >>

N Engl J Med (The New England journal of medicine)
[2018, 379(11):1017-1027]

Cited: 22 times

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Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Amytice Mirchi, Félixe Pelletier, Luan T Tran, Stephanie Keller, Nancy Braverman, Davide Tonduti, Adeline Vanderver, Amy Pizzino, Marie-Emmanuelle Dilenge, Chantal Poulin, Michael Shevell, Annette Majnemer, Guillaume Sébire, Myriam Srour, Bradley Osterman, Renée-Myriam Boucher, Michel Vanasse, Elsa Rossignol, John Mitchell, Sunita Venkateswaran, Daniela Pohl, Marcelo Kauffman, Raphael Schiffmann, Cyril Goizet, Sebastien Moutton, Federico Roncarolo, Geneviève Bernard,

BACKGROUND:We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence of a precise molecular diagnosis. METHODS:Health-related quality of life was assessed using the Pediatric Quality of Life Inventory model (Pediatric Quality ... Read more >>

Pediatr Neurol (Pediatric neurology)
[2018, 84:21-26]

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Correction to: Impact of an electronic monitoring device and behavioural feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.

E Ann Yeh, Stephanie A Grover, Victoria E Powell, Gulay Alper, Brenda L Banwell, Kim Edwards, Mark Gorman, Jennifer Graves, Timothy E Lotze, Jean K Mah, Lauren Mednick, Jayne Ness, Maya Obadia, Ruth Slater, Amy Waldman, Emmanuelle Waubant, Carolyn E Schwartz, ,

The clinicaltrials.gov identifying number for the article titled "Impact of an electronic monitoring device and behavioral feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial" is NCT02234713 (https://clinicaltrials.gov/ct2/show/NCT02234713). ... Read more >>

Qual Life Res (Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation)
[2018, 27(4):1117]

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MRI and laboratory features and the performance of international criteria in the diagnosis of multiple sclerosis in children and adolescents: a prospective cohort study.

Giulia Fadda, Robert A Brown, Giulia Longoni, Denise A Castro, Julia O'Mahony, Leonard H Verhey, Helen M Branson, Patrick Waters, Amit Bar-Or, Ruth Ann Marrie, E Ann Yeh, Sridar Narayanan, Douglas L Arnold, Brenda Banwell, ,

BACKGROUND:MRI and laboratory features have been incorporated into international diagnostic criteria for multiple sclerosis. We assessed the pattern of MRI lesions and contributions of cerebrospinal fluid (CSF) and serum antibody findings that best identifies children with multiple sclerosis, and the applicability of international diagnostic criteria in the paediatric context. METHODS:In ... Read more >>

Lancet Child Adolesc Health (The Lancet. Child & adolescent health)
[2018, 2(3):191-204]

Cited: 7 times

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The impact of electronic consultation on a Canadian tertiary care pediatric specialty referral system: A prospective single-center observational study.

Lillian Lai, Clare Liddy, Erin Keely, Amir Afkham, Julia Kurzawa, Nishard Abdeen, Tobey Audcent, Matthew Bromwich, Jason Brophy, Sasha Carsen, Annick Fournier, Leigh Fraser-Roberts, Hazen Gandy, Charles Hui, Donna Johnston, Kathryn Keely, Ken Kontio, Christine Lamontagne, Nathalie Major, Michael O'Connor, Dhenuka Radhakrishnan, Joe Reisman, Marjorie Robb, Lindy Samson, Erick Sell, William Splinter, Judy van Stralen, Sunita Venkateswaran, Kimmo Murto,

Champlain BASE™ (Building Access to Specialists through eConsultation) is a web-based asynchronous electronic communication service that allows primary-care- practitioners (PCPs) to submit "elective" clinical questions to a specialist. For adults, PCPs have reported improved access and timeliness to specialist advice, averted face-to-face specialist referrals in up to 40% of cases ... Read more >>

PLoS One (PloS one)
[2018, 13(1):e0190247]

Cited: 8 times

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The spectrum of adult-onset heritable white-matter disorders.

Guy Helman, Sunita Venkateswaran, Adeline Vanderver,

Unique clinical presentations and magnetic resonance imaging patterns can help differentiate the various adult presentations of leukodystrophies and leukoencephalopathies. White-matter disorders are genetically based disorders affecting the central nervous system white matter, with or without peripheral nervous system involvement. These disorders predominantly affect patients in the pediatric population; however, a ... Read more >>

Handb Clin Neurol (Handbook of clinical neurology)
[2018, 148:669-692]

Cited: 1 time

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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Cas Simons, David Dyment, Stephen J Bent, Joanna Crawford, Marc D'Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee-Tien Poll-The, Christine C Makowski, Yoko Ito, Kristin Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J Taft, , Marjo S van der Knaap, Nicole I Wolf,

Hypomyelinating leukodystrophies are a heterogeneous group of disorders with a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity. Using next-generation sequencing techniques and GeneMatcher, we identified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mutation, c.754G>A p.(Asp252Asn), in ... Read more >>

Brain (Brain : a journal of neurology)
[2017, 140(12):3105-3111]

Cited: 13 times

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T Cho, Jill A Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, , David R FitzPatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E Fry, Rhys H Thomas, Joss Shelagh, Jane A Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H Gerkes, Laura Davis-Keppen, Quinn Stein, Wendy K Chung, Sara J Dorison, Paul J Benke, Emily Fassi, Nicole Corsten-Janssen, Erik-Jan Kamsteeg, Frederic T Mau-Them, Ange-Line Bruel, Alain Verloes, Katrin Õunap, Monica H Wojcik, Dara V F Albert, Sunita Venkateswaran, Tyson Ware, Dean Jones, Yu-Chi Liu, Shekeeb S Mohammad, Peyman Bizargity, Carlos A Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J Wierenga, Gabriela Purcarin, James J O'Byrne, Sylvia Stockler, Anna Lehman, Boris Keren, Marie-Christine Nougues, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R Lalani, Richard E Frye, Imad T Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Emilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D'Anjou, Guillaume Bourque, Samuel F Berkovic, Lynette G Sadleir, Philippe M Campeau, Zoha Kibar, Ronald G Lafrenière, Simon L Girard, Saadet Mercimek-Mahmutoglu, Cyrus Boelman, Guy A Rouleau, Ingrid E Scheffer, Heather C Mefford, Danielle M Andrade, Elsa Rossignol, Berge A Minassian, Jacques L Michaud,

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2017, 101(5):664-685]

Cited: 64 times

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SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.

Ashraf Kharrat, Jennifer MacKenzie, Sunita Venkateswaran,

Can J Neurol Sci (The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques)
[2017, 44(6):749-751]

Cited: 0 times

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Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, , Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment,

Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2017, 25(9):1049-1054]

Cited: 10 times

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Impact of an electronic monitoring device and behavioral feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.

E Ann Yeh, Stephanie A Grover, Victoria E Powell, Gulay Alper, Brenda L Banwell, Kim Edwards, Mark Gorman, Jennifer Graves, Timothy E Lotze, Jean K Mah, Lauren Mednick, Jayne Ness, Maya Obadia, Ruth Slater, Amy Waldman, Emmanuelle Waubant, Carolyn E Schwartz, ,

PURPOSE:To report the results of a randomized controlled trial using an electronic monitoring device (EM) plus a motivational interviewing (MI) intervention to enhance adherence to disease-modifying therapies (DMT) in pediatric MS. METHODS:Fifty-two youth with MS (16.03 ± 2.2 years) were randomized to receive either MI (n = 25) (target intervention) or a MS medication video ... Read more >>

Qual Life Res (Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation)
[2017, 26(9):2333-2349]

Cited: 4 times

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Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour,

Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2017, 173(6):1593-1600]

Cited: 1 time

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Differential diagnosis and evaluation in pediatric inflammatory demyelinating disorders.

Kevin Rostasy, Barbara Bajer-Kornek, Sunita Venkateswaran, Cheryl Hemingway, Marc Tardieu,

Major advances have been made in the clinical and radiologic characterization of children presenting with the different forms of an acquired inflammatory demyelinating syndrome (ADS) such as acute disseminating encephalomyelitis, neuromyelitis optica spectrum disorders, and clinically isolated syndromes. Nevertheless, a proportion of cases that present with similar symptoms are due ... Read more >>

Neurology (Neurology)
[2016, 87(9 Suppl 2):S28-37]

Cited: 8 times

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