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ArticlesPeer ReviewedFull Text
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-05, Vol.10 (5), p.e0127045-e0127045
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Newspaper ArticlesFull Text
Brain disorder discloses its presence with laughter; Researchers' report says uncontrolled giggles can signal congenital lesion: FINAL Edition
Author / Creator:Roylance, Frank D
Publisher:Baltimore, Md: Tribune Publishing Company, LLC
Journal title:The Sun (Baltimore, Md. : 1837), 2000-02-24
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ArticlesPeer ReviewedFull Text
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-08, Vol.10 (8), p.e0137370-e0137370
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ArticlesPeer ReviewedFull Text
Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases
Author / Creator:Rosenfeld, Jill A. ; Amrom, Dina ; Andermann, Eva ; Andermann, Frederick ; Veilleux, Martin ; Curry, Cynthia ; Fisher, Jamie ; Deputy, Stephen ; Aylsworth, Arthur S. ; Powell, Cynthia M. ; Manickam, Kandamurugu ; Heese, Bryce ; Maisenbacher, Melissa ; Stevens, Cathy ; Ellison, Jay W. ; Upton, Sheila ; Moeschler, John ; Torres-Martinez, Wilfredo ; Stevens, Abby ; Marion, Robert ; Pereira, Elaine Maria ; Babcock, Melanie ; Morrow, Bernice ; Sahoo, Trilochan ; Lamb, Allen N. ; Ballif, Blake C. ; Paciorkowski, Alex R. ; Shaffer, Lisa G.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2012-02, Vol.13 (1), p.31-47
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ArticlesFull Text
Order of Canada awards
Publisher:Don Mills: Community Action Publishers
Journal title:Community action (Don Mills), 2006-08, Vol.22 (1), p.5
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ArticlesFull Text
MDs honoured for contributions to child health
Author / Creator:Murray, Terry
Publisher:Chicago: EnsembleIQ
Journal title:Medical Post, 2004-07, Vol.40 (28), p.19
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ArticlesPeer ReviewedFull Text
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
Author / Creator:Allen, Andrew S ; Bellows, Susannah T ; Berkovic, Samuel F ; Bridgers, Joshua ; Burgess, Rosemary ; Cavalleri, Gianpiero ; Chung, Seo-Kyung ; Cossette, Patrick ; Delanty, Norman ; Dlugos, Dennis ; Epstein, Michael P ; Freyer, Catharine ; Goldstein, David B ; Heinzen, Erin L ; Hildebrand, Michael S ; Johnson, Michael R ; Kuzniecky, Ruben ; Lowenstein, Daniel H ; Marson, Anthony G ; Mayeux, Richard ; Mebane, Caroline ; Mefford, Heather C ; O'Brien, Terence J ; Ottman, Ruth ; Petrou, Steven ; Petrovski, Slavgé ; Pickrell, William O ; Poduri, Annapurna ; Radtke, Rodney A ; Rees, Mark I ; Regan, Brigid M ; Ren, Zhong ; Scheffer, Ingrid E ; Sills, Graeme J ; Thomas, Rhys H ; Wang, Quanli ; Abou-Khalil, Bassel ; Alldredge, Brian K ; Amrom, Dina ; Andermann, Eva ; Andermann, Frederick ; Bautista, Jocelyn F. ; Bluvstein, Judith ; Boro, Alex ; Cascino, Gregory D ; Consalvo, Damian ; Crumrine, Patricia ; Devinsky, Orrin ; Fiol, Miguel ; Fountain, Nathan B ; French, Jacqueline ; Friedman, Daniel ; Geller, Eric B ; Glauser, Tracy ; Glynn, Simon ; Haas, Kevin ; Haut, Sheryl R ; Hayward, Jean ; Helmers, Sandra L ; Joshi, Sucheta ; Kanner, Andres ; Kirsch, Heidi E ; Knowlton, Robert C ; Kossoff, Eric H ; Kuperman, Rachel ; Motika, Paul V ; Novotny, Edward J ; Paolicchi, Juliann M ; Parent, Jack M ; Park, Kristen ; Sadleir, Lynette G ; Shellhaas, Renée A. ; Sherr, Elliott H ; Shih, Jerry J. ; Shinnar, Shlomo ; Singh, Rani K ; Sirven, Joseph ; Smith, Michael C ; Sullivan, Joseph ; Thio, Liu Lin ; Venkat, Anu ; Vining, Eileen P.G ; Von Allmen, Gretchen K ; Weisenberg, Judith L ; Widdess-Walsh, Peter ; Winawer, Melodie R
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2017-02, Vol.16 (2), p.135-143
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ArticlesPeer ReviewedFull Text
New-Onset Seizures after Liver Transplantation: Clinical Implications and Prognosis in Survivors
Author / Creator:Choi, Eun Jung ; Kang, Joong Koo ; Lee, Sang Ahm ; Kim, Ki Hun ; Lee, Sung Gyu ; Andermann, Frederick
Publisher:Basel, Switzerland: Karger
Journal title:European neurology, 2004-01, Vol.52 (4), p.230-236
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ArticlesPeer ReviewedFull Text
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Author / Creator:Muona, Mikko ; Berkovic, Samuel F ; Dibbens, Leanne M ; Oliver, Karen L ; Maljevic, Snezana ; Bayly, Marta A ; Joensuu, Tarja ; Canafoglia, Laura ; Franceschetti, Silvana ; Michelucci, Roberto ; Markkinen, Salla ; Heron, Sarah E ; Hildebrand, Michael S ; Andermann, Eva ; Andermann, Frederick ; Gambardella, Antonio ; Tinuper, Paolo ; Licchetta, Laura ; Scheffer, Ingrid E ; Criscuolo, Chiara ; Filla, Alessandro ; Ferlazzo, Edoardo ; Ahmad, Jamil ; Ahmad, Adeel ; Baykan, Betul ; Said, Edith ; Topcu, Meral ; Riguzzi, Patrizia ; King, Mary D ; Ozkara, Cigdem ; Andrade, Danielle M ; Engelsen, Bernt A ; Crespel, Arielle ; Lindenau, Matthias ; Lohmann, Ebba ; Saletti, Veronica ; Massano, João ; Privitera, Michael ; Espay, Alberto J ; Kauffmann, Birgit ; Duchowny, Michael ; Møller, Rikke S ; Straussberg, Rachel ; Afawi, Zaid ; Ben-Zeev, Bruria ; Samocha, Kaitlin E ; Daly, Mark J ; Petrou, Steven ; Lerche, Holger ; Palotie, Aarno ; Lehesjoki, Anna-Elina
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-01, Vol.47 (1), p.39-46
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ArticlesPeer ReviewedFull Text
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Author / Creator:Dibbens, Leanne M ; de Vries, Boukje ; Donatello, Simona ; Heron, Sarah E ; Hodgson, Bree L ; Chintawar, Satyan ; Crompton, Douglas E ; Hughes, James N ; Bellows, Susannah T ; Klein, Karl Martin ; Callenbach, Petra M C ; Corbett, Mark A ; Gardner, Alison E ; Kivity, Sara ; Iona, Xenia ; Regan, Brigid M ; Weller, Claudia M ; Crimmins, Denis ; O'Brien, Terence J ; Guerrero-López, Rosa ; Mulley, John C ; Dubeau, Francois ; Licchetta, Laura ; Bisulli, Francesca ; Cossette, Patrick ; Thomas, Paul Q ; Gecz, Jozef ; Serratosa, Jose ; Brouwer, Oebele F ; Andermann, Frederick ; Andermann, Eva ; van den Maagdenberg, Arn M J M ; Pandolfo, Massimo ; Berkovic, Samuel F ; Scheffer, Ingrid E
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-05, Vol.45 (5), p.546-551
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ArticlesPeer ReviewedFull Text
Familial Agenesis of the Cerebellar Vermis: A Syndrome of Episodic Hyperpnea, Abnormal Eye Movements, Ataxia, and Retardation
Author / Creator:Joubert, Marie ; Eisenring, Jean-Jacques ; Robb, J. Preston ; Andermann, Frederick
Publisher:Thousand Oaks, CA: SAGE Publications
Journal title:Journal of child neurology, 1999-09, Vol.14 (9), p.554-564
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ArticlesPeer ReviewedFull Text
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Author / Creator:Jedličková, Ivana ; Cadieux-Dion, Maxime ; Přistoupilová, Anna ; Stránecký, Viktor ; Hartmannová, Hana ; Hodaňová, Kateřina ; Barešová, Veronika ; Hůlková, Helena ; Sikora, Jakub ; Nosková, Lenka ; Mušálková, Dita ; Vyleťal, Petr ; Sovová, Jana ; Cossette, Patrick ; Andermann, Eva ; Andermann, Frederick ; Kmoch, Stanislav
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.783-789
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ArticlesPeer ReviewedFull Text
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Author / Creator:Allen, Andrew S ; Berkovic, Samuel F ; Bridgers, Joshua ; Cossette, Patrick ; Dlugos, Dennis ; Epstein, Michael P ; Glauser, Tracy ; Goldstein, David B ; Heinzen, Erin L ; Jiang, Yu ; Johnson, Michael R ; Kuzniecky, Ruben ; Lowenstein, Daniel H ; Marson, Anthony G ; Mefford, Heather C ; O'Brien, Terence J ; Ottman, Ruth ; Petrou, Steven ; Petrovski, Slave ; Poduri, Annapurna ; Ren, Zhong ; Scheffer, Ingrid E ; Sherr, Elliott ; Wang, Quanli ; Balling, Rudi ; Barisic, Nina ; Baulac, Stephanie ; Caglayan, Hande ; Craiu, Dana ; De Jonghe, Peter ; Depienne, Christel ; Guerrini, Renzo ; Helbig, Ingo ; Hjalgrim, Helle ; Hoffman-Zacharska, Dorota ; Jaehn, Johanna ; Klein, Karl Martin ; Koeleman, Bobby ; Komarek, Vladimir ; Krause, Roland ; Leguern, Eric ; Lehesjoki, Anna-Elina ; Lemke, Johannes R ; Lerche, Holger ; Linnankivi, Tarja ; Marini, Carla ; May, Patrick ; Moeller, Rikke S ; Muhle, Hiltrud ; Pal, Deb ; et. al
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.894-899
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ArticlesPeer ReviewedFull Text
Automated detection of focal cortical dysplasia lesions using computational models of their MRI characteristics and texture analysis
Author / Creator:Antel, Samson B ; Collins, D.Louis ; Bernasconi, Neda ; Andermann, Frederick ; Shinghal, Rajjan ; Kearney, Robert E ; Arnold, Douglas L ; Bernasconi, Andrea
Publisher:United States: Elsevier Inc
Journal title:NeuroImage (Orlando, Fla.), 2003-08, Vol.19 (4), p.1748-1759
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ArticlesPeer ReviewedFull Text
T2 Relaxometry Can Lateralize Mesial Temporal Lobe Epilepsy in Patients with Normal MRI
Author / Creator:Bernasconi, Andrea ; Bernasconi, Neda ; Caramanos, Zografos ; Reutens, David C. ; Andermann, Frederick ; Dubeau, François ; Tampieri, Donatella ; Pike, Bruce G. ; Arnold, Douglas L.
Publisher:United States: Elsevier Inc
Journal title:NeuroImage (Orlando, Fla.), 2000-12, Vol.12 (6), p.739-746
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ArticlesPeer ReviewedFull Text
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry: e0127045
Author / Creator:Viollet, Louis ; Glusman, Gustavo ; Murphy, Kelley J ; Newcomb, Tara M ; Reyna, Sandra P ; Sweney, Matthew ; Nelson, Benjamin ; Andermann, Frederick ; Andermann, Eva ; Acsadi, Gyula
Journal title:PloS one, 2015-05, Vol.10 (5)
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ArticlesPeer ReviewedFull Text
Congenital bilateral perisylvian syndrome: study of 31 patients
Author / Creator:Kuzniecky, R. ; Andermann, F. ; Guerrini, R. ; The CBPS Multicenter Collaborative Study
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 1993-03, Vol.341 (8845), p.608-612
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ArticlesPeer ReviewedFull Text
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis
Author / Creator:DOBSON-STONE, Carol ; VELAYOS-BAEZA, Antonio ; ANDERMANN, Eva ; MONACO, Anthony P ; JANSEN, An ; ANDERMANN, Frederick ; DUBEAU, Francois ; ROBERT, Francine ; SUMMERS, Anne ; LANG, Anthony E ; CHOUINARD, Sylvain ; DANEK, Adrian
Publisher:Berlin: Springer
Journal title:Neurogenetics, 2005-09, Vol.6 (3), p.151-158
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ArticlesPeer ReviewedFull Text
History of Joubert Syndrome and a 30-Year Follow-Up of the Original Proband
Author / Creator:Andermann, Frederick ; Andermann, Eva ; Ptito, Alain ; Fontaine, Suzanne ; Joubert, Marie
Publisher:Thousand Oaks, CA: SAGE Publications
Journal title:Journal of child neurology, 1999-09, Vol.14 (9), p.565-569
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ArticlesPeer ReviewedFull Text
Anticipation in familial cavernous angioma: a study of 52 families from International Familial Cavernous Angioma Study
Author / Creator:Siegel, Adrian M ; Andermann, Eva ; Badhwar, Amanpreet ; Rouleau, Guy A ; Wolford, George L ; Andermann, Frederick ; Hess, Klaus
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 1998-11, Vol.352 (9141), p.1676-1677
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Showing 1 to 20 of 26 results

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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

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Brain disorder discloses its presence with laughter; Researchers' report says uncontrolled giggles can signal congenital lesion: FINAL Edition

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Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

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Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

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Order of Canada awards

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MDs honoured for contributions to child health

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Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

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New-Onset Seizures after Liver Transplantation: Clinical Implications and Prognosis in Survivors

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci

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Familial Agenesis of the Cerebellar Vermis: A Syndrome of Episodic Hyperpnea, Abnormal Eye Movements, Ataxia, and Retardation

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

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Automated detection of focal cortical dysplasia lesions using computational models of their MRI characteristics and texture analysis

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T2 Relaxometry Can Lateralize Mesial Temporal Lobe Epilepsy in Patients with Normal MRI

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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry: e0127045

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Congenital bilateral perisylvian syndrome: study of 31 patients

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Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis

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History of Joubert Syndrome and a 30-Year Follow-Up of the Original Proband

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Anticipation in familial cavernous angioma: a study of 52 families from International Familial Cavernous Angioma Study

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