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Brivaracetam in Unverricht-Lundborg disease ( EPM1): Results from two randomized, double-blind, placebo-controlled studies.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 2, p. 210, doi. 10.1111/epi.13275
By:
- Kälviäinen, Reetta;
- Genton, Pierre;
- Andermann, Eva;
- Andermann, Frederick;
- Magaudda, Adriana;
- Frucht, Steven J.;
- Schlit, Anne‐Françoise;
- Gerard, Danielle;
- Loge, Christine;
- Rosenstiel, Philipp
Publication type:
Article
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 9, p. e122, doi. 10.1111/epi.12323
By:
- Mulley, John C.;
- Hodgson, Bree;
- McMahon, Jacinta M.;
- Iona, Xenia;
- Bellows, Susannah;
- Mullen, Saul A;
- Farrell, Kevin;
- Mackay, Mark;
- Sadleir, Lynette;
- Bleasel, Andrew;
- Gill, Deepak;
- Webster, Richard;
- Wirrell, Elaine C.;
- Harbord, Michael;
- Sisodiya, Sanyjay;
- Andermann, Eva;
- Kivity, Sara;
- Berkovic, Samuel F.;
- Scheffer, Ingrid E.;
- Dibbens, Leanne M.
Publication type:
Article
SCN1A testing for epilepsy: Application in clinical practice.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 5, p. 946, doi. 10.1111/epi.12168
By:
- Hirose, Shinichi;
- Scheffer, Ingrid E.;
- Marini, Carla;
- Jonghe, Peter;
- Andermann, Eva;
- Goldman, Alica M.;
- Kauffman, Marcelo;
- Tan, Nigel C. K.;
- Lowenstein, Daniel H.;
- Sisodiya, Sanjay M.;
- Ottman, Ruth;
- Berkovic, Samuel F.
Publication type:
Article
A life in epilepsy.
Published in:
Epilepsia (Series 4), 2010, v. 51, p. 101, doi. 10.1111/j.1528-1167.2009.02462.x
By:
- Andermann, Eva;
- Andermann, Frederick
Publication type:
Article
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1670, doi. 10.1111/j.1528-1167.2009.02013.x
By:
- Marini, Carla;
- Scheffer, Ingrid E.;
- Nabbout, Rima;
- Mei, Davide;
- Cox, Kathy;
- Dibbens, Leanne M.;
- McMahon, Jacinta M.;
- Iona, Xenia;
- Carpintero, Rochio Sanchez;
- Elia, Maurizio;
- Cilio, Maria Roberta;
- Specchio, Nicola;
- Giordano, Lucio;
- Striano, Pasquale;
- Gennaro, Elena;
- Cross, J. Helen;
- Kivity, Sara;
- Neufeld, Miriam Y.;
- Afawi, Zaid;
- Andermann, Eva
Publication type:
Article
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 5, p. 910, doi. 10.1111/j.1528-1167.2008.01542.x
By:
- Jansen, An C.;
- Andermann, Eva;
- Niel, Florence;
- Creveaux, Isabelle;
- Boespflug-Tanguy, Odile;
- Andermann, Frederick
Publication type:
Article
Surgical Outcome in Tuberous Sclerosis Complex: A Multicenter Survey.
Published in:
Epilepsia (Series 4), 2007, v. 48, n. 8, p. 1625, doi. 10.1111/j.1528-1167.2007.01112.x
By:
- Madhavan, Deepak;
- Schaffer, Sarah;
- Yankovsky, Alexei;
- Arzimanoglou, Alexis;
- Renaldo, Florence;
- Zaroff, Charles M.;
- LaJoie, Josiane;
- Weiner, Howard L.;
- Andermann, Eva;
- Franz, David N.;
- Leonard, Jennifer;
- Connolly, Mary;
- Cascino, Greg D.;
- Devinsky, Orrin
Publication type:
Article
Katherine Metrakos: July 13, 1924–May 12, 2005.
Published in:
2006
By:
- Keene, Daniel L.;
- Andermann, Fred;
- Andermann, Eva
Publication type:
Obituary
Genetic Focal Epilepsies: State of the Art and Paths to the Future.
Published in:
Epilepsia (Series 4), 2005, v. 46, p. 61, doi. 10.1111/j.1528-1167.2005.00361.x
By:
- Andermann, Frederick;
- Kobayashi, Eliane;
- Andermann, Eva
Publication type:
Article
Familial Temporal Lobe Epilepsy as a Presenting Feature of Choreoacanthocytosis.
Published in:
Epilepsia (Series 4), 2005, v. 46, n. 8, p. 1256, doi. 10.1111/j.1528-1167.2005.65804.x
By:
- Al-Asmi, Abdullah;
- Jansen, An C.;
- Badhwar, AmanPreet;
- Dubeau, François;
- Tampieri, Donatella;
- Shustik, Chaim;
- Mercho, Suha;
- Savard, Ghislaine;
- Dobson-Stone, Carol;
- Monaco, Anthony P.;
- Andermann, Frederick;
- Andermann, Eva
Publication type:
Article
Antimyoclonic Efficacy of Piracetam in Idiopathic Generalized Epilepsy.
Published in:
2005
By:
- Khani, Yahya Agha;
- Andermann, Frederick;
- Andermann, Eva
Publication type:
Letter
Biparental Inheritance in Idiopathic Generalized Epilepsy.
Published in:
Epilepsia (Series 4), 2004, v. 45, n. 10, p. 1294, doi. 10.1111/j.0013-9580.2004.22004.x
By:
- Jansen, An C.;
- Andermann, Eva;
- Andermann, Frederick
Publication type:
Article
Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12.
Published in:
Epilepsia (Series 4), 2004, v. 45, n. 9, p. 1054, doi. 10.1111/j.0013-9580.2004.30502.x
By:
- Berkovic, Samuel F.;
- Serratosa, Jose M.;
- Phillips, Hilary A.;
- Lan Xiong;
- Andermann, Eva;
- Díaz-Otero, Fernando;
- Gómez-Garre, Pilar;
- Martín, Mercedes;
- Fern´ndez-Bullido, Yolanda;
- Andermann, Frederick;
- Lopes-Cendes, lscia;
- Dubeau, Francois;
- Desbiens, Richard;
- Scheffer, Ingrid E.;
- Wallace, Robyn H.;
- Mulley, John C.;
- Pandolfo, Massimo
Publication type:
Article
Outcome of Surgical Treatment in Familial Mesial Temporal Lobe Epilepsy.
Published in:
Epilepsia (Series 4), 2003, v. 44, n. 8, p. 1080, doi. 10.1046/j.1528-1157.2003.06503.x
By:
- Kobayashi, Eliane;
- D'Agostino, Maria Daniela;
- Lopes-Cendes, Iscia;
- Andermann, Eva;
- Dubeau, François;
- Guerreiro, Carlos A. M.;
- Schenka, André A.;
- Queiroz, Luciano S.;
- Olivier, André;
- Cendes, Fernando;
- Andermann, Frederick
Publication type:
Article
Repeated Neural Tube Defects and Valproate Monotherapy Suggest a Pharmacogenetic Abnormality.
Published in:
Epilepsia (Series 4), 2001, v. 42, n. 6, p. 750, doi. 10.1046/j.1528-1157.2001.44300.x
By:
- Duncan, Susan;
- Mercho, Suha;
- Lopes-Cendes, Iscia;
- Seni, Marie-Helene;
- Benjamin, Alice;
- Dubeau, Francois;
- Andermann, Frederick;
- Andermann, Eva
Publication type:
Article
Duplication 2p16 is associated with perisylvian polymicrogyria.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2343, doi. 10.1002/ajmg.a.61342
By:
- Amrom, Dina;
- Poduri, Annapurna;
- Goldman, Jennifer S.;
- Dan3, Bernard;
- Deconinck3, Nicolas;
- Pichon, Bruno;
- Nadaf, Javad;
- Andermann, Frederick;
- Andermann, Eva;
- Walsh, Christopher A.;
- Dobyns, William B.
Publication type:
Article
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Published in:
Nature Genetics, 2003, v. 35, n. 2, p. 125, doi. 10.1038/ng1238
By:
- Elayne M Chan;
- Edwin J Young;
- Ianzano, Leonarda;
- Munteanu, Iulia;
- Xiaochu Zhao;
- Christopoulos, Constantine C.;
- Avanzini, Giuliano;
- Elia, Maurizio;
- Ackerley, Cameron A.;
- Jovic, Nebojsa J.;
- Bohlega, Saeed;
- Andermann, Eva;
- Rouleau, Guy A.;
- Delgado-Escueta, Antonio V.;
- Minassian, Berge A.;
- Scherer, Stephen W.
Publication type:
Article
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Published in:
2015
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
Publication type:
Correction Notice
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Published in:
PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127045
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
Publication type:
Article
The histopathology of polymicrogyria: a series of 71 brain autopsy studies.
Published in:
2016
By:
- Jansen, Anna C;
- Robitaille, Yves;
- Honavar, Mrinalini;
- Mullatti, Nandini;
- Leventer, Richard J;
- Andermann, Eva;
- Andermann, Frederick;
- Squier, Waney
Publication type:
journal article
Infantile hypotonia and paroxysmal dystonia: A variant of alternating hemiplegia of childhood?
Published in:
Movement Disorders, 1994, v. 9, n. 2, p. 227, doi. 10.1002/mds.870090219
By:
- Andermann, Frederick;
- Ohtahara, Shunsuke;
- Andermann, Eva;
- Camfield, Peter;
- Kobayashi, Katsuhiro
Publication type:
Article
The Ramsay Hunt syndrome is no longer a useful diagnostic category.
Published in:
Movement Disorders, 1989, v. 4, n. 1, p. 13, doi. 10.1002/mds.870040104
By:
- Andermann, Frederick;
- Berkovic, Samuel;
- Carpenter, Stirling;
- Andermann, Eva
Publication type:
Article
Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia.
Published in:
Journal of Neuroscience, 2010, v. 30, n. 28, p. 9612, doi. 10.1523/JNEUROSCI.1763-10.2010
By:
- Seo-Kyung Chung;
- Vanbellinghen, Jean-François;
- Mullins, Jonathan G. L.;
- Robinson, Angela;
- Hantke, Janina;
- Hammond, Carrie L.;
- Gilbert, Daniel F.;
- Freilinger, Michael;
- Ryan, Monique;
- Kruer, Michael C.;
- Masri, Amira;
- Gurses, Candan;
- Ferrie, Colin;
- Harvey, Kirsten;
- Shiang, Rita;
- Christodoulou, John;
- Andermann, Frederick;
- Andermann, Eva;
- Thomas, Rhys H.;
- Harvey, Robert J.
Publication type:
Article
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1415, doi. 10.1093/brain/awq078
By:
- Leventer, Richard J.;
- Jansen, Anna;
- Pilz, Daniela T.;
- Stoodley, Neil;
- Marini, Carla;
- Dubeau, Francois;
- Malone, Jodie;
- Mitchell, L. Anne;
- Mandelstam, Simone;
- Scheffer, Ingrid E.;
- Berkovic, Samuel F.;
- Andermann, Frederick;
- Andermann, Eva;
- Guerrini, Renzo;
- Dobyns, William B.
Publication type:
Article
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 843
By:
- Louise A. Harkin;
- Jacinta M. McMahon;
- Xenia Iona;
- Leanne Dibbens;
- James T. Pelekanos;
- Sameer M. Zuberi;
- Lynette G. Sadleir;
- Eva Andermann;
- Deepak Gill;
- Kevin Farrell;
- Mary Connolly;
- Thorsten Stanley;
- Michael Harbord;
- Frederick Andermann;
- Jing Wang;
- Sat Dev Batish;
- Jeffrey G. Jones;
- William K. Seltzer;
- Alison Gardner
Publication type:
Article
Periventricular nodular heterotopia with overlying polymicrogyria.
Published in:
Brain: A Journal of Neurology, 2005, v. 128, n. 12, p. 2811, doi. 10.1093/brain/awh658
By:
- Gretchen Wieck;
- Richard J. Leventer;
- Waney M. Squier;
- An Jansen;
- Eva Andermann;
- Francois Dubeau;
- Anna Ramazzotti;
- Renzo Guerrini;
- William B. Dobyns
Publication type:
Article
Cortical triggers in generalized reflex seizures and epilepsies.
Published in:
Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 700, doi. 10.1093/brain/awh446
By:
- Edoardo Ferlazzo;
- Benjamin G. Zifkin;
- Eva Andermann;
- Frederick Andermann
Publication type:
Article
Action myoclonus–renal failure syndrome: characterization of a unique cerebro-renal disorder.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 10, p. 2173, doi. 10.1093/brain/awh263
By:
- AmanPreet Badhwar;
- Samuel F. Berkovic;
- John P. Dowling;
- Michael Gonzales;
- Sridar Narayanan;
- Amy Brodtmann;
- Leon Berzen;
- John Caviness;
- Claudia Trenkwalder;
- Juliane Winkelmann;
- Jean Rivest;
- Marie Lambert;
- Otto Hernandez-Cossio;
- Stirling Carpenter;
- Frederick Andermann;
- Eva Andermann
Publication type:
Article
Differential impact of the FMR1 gene on visual processing in fragile X syndrome.
Published in:
2004
By:
- Kogan CS;
- Boutet I;
- Cornish K;
- Zangenehpour S;
- Mullen KT;
- Holden JJA;
- Der Kaloustian VM;
- Andermann E;
- Chaudhuri A;
- Kogan, Cary S;
- Boutet, Isabelle;
- Cornish, Kim;
- Zangenehpour, Shahin;
- Mullen, Kathy T;
- Holden, Jeanette J A;
- Der Kaloustian, Vazken M;
- Andermann, Eva;
- Chaudhuri, Avi
Publication type:
journal article
Differential impact of the FMR1 gene on visual processing in fragile X syndrome.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 3, p. 591
By:
- Cary S. Kogan;
- Isabelle Boutet;
- Kim Cornish;
- Shahin Zangenehpour;
- Kathy T. Mullen;
- Jeanette J. A. Holden;
- Vazken M. Der Kaloustian;
- Eva Andermann;
- Avi Chaudhuri
Publication type:
Article
Stages and patterns of centrifugal arrest of diffuse neuronal migration disorders.
Published in:
1993
By:
- Palmini, André;
- Andermann, Frederick;
- Grissac, Henri;
- Tampieri, Donatella;
- Robitaille, Yvon;
- Langevin, Pierre;
- Desbiens, Richard;
- Andermann, Eva;
- Palmini, A;
- Andermann, F;
- de Grissac, H;
- Tampieri, D;
- Robitaille, Y;
- Langevin, P;
- Desbiens, R;
- Andermann, E
Publication type:
journal article
The role of copy number variants in the genetic architecture of common familial epilepsies.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 3, p. 792, doi. 10.1111/epi.17860
By:
- Almanza Fuerte, Edith P.;
- Nguyen, John;
- Mehaffey, Michelle;
- Sulovari, Arvis;
- Wang, Tianyun;
- Galey, Miranda;
- Miller, Danny E.;
- Eichler, Evan E.;
- Mefford, Heather C.;
- Abou‐Khalil, Bassel;
- Afawi, Zaid Afawi;
- Allen, Andrew S.;
- Amrom, Dina;
- Andermann, Eva;
- Bautista, Jocelyn F.;
- Bellows, Susannah T.;
- Berkovic, Samuel F.;
- Bluvstein, Judith;
- Boro, Alexis;
- Burgess, Rosemary
Publication type:
Article
Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 3, p. 723, doi. 10.1111/epi.17166
By:
- Koko, Mahmoud;
- Motelow, Joshua E.;
- Stanley, Kate E.;
- Bobbili, Dheeraj R.;
- Dhindsa, Ryan S.;
- May, Patrick;
- Alldredge, Brian K.;
- Allen, Andrew S.;
- Altmüller, Janine;
- Amrom, Dina;
- Andermann, Eva;
- Auce, Pauls;
- Avbersek, Andreja;
- Baulac, Stéphanie;
- Bautista, Jocelyn F.;
- Becker, Felicitas;
- Bellows, Susannah T.;
- Berghuis, Bianca;
- Berkovic, Samuel F.;
- Bluvstein, Judith
Publication type:
Article
Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 8, p. e125, doi. 10.1111/epi.14506
By:
- Kinay, Demet;
- Oliver, Karen L.;
- Tüzün, Erdem;
- Damiano, John A.;
- Ulusoy, Canan;
- Andermann, Eva;
- Hildebrand, Michael S.;
- Bahlo, Melanie;
- Berkovic, Samuel F.
Publication type:
Article
Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects.
Published in:
Canadian Medical Association Journal (CMAJ), 1993, v. 149, n. 9, p. 1239
By:
- Van Allen, Margot I.;
- Fraser, F.Clarke;
- Dallaire, Louis;
- Allanson, Judith;
- McLeod, D. Ross;
- Andermann, Eva;
- Friedman, Jan M.
Publication type:
Article
Encephalopathy with Neuroserpin Inclusion Bodies Presenting as Progressive Myoclonus Epilepsy and Associated with a Novel Mutation in the Proteinase Inhibitor 12 Gene.
Published in:
2011
By:
- Hagen, Matthew C.;
- Murrell, Jill R.;
- Delisle, Marie-Bernadette;
- Andermann, Eva;
- Andermann, Frederick;
- Guiot, Marie Christine;
- Ghetti, Bernardino
Publication type:
Other
Searching for Human Epilepsy Genes: A Progress Report.
Published in:
Brain Pathology, 1993, v. 3, n. 4, p. 357, doi. 10.1111/j.1750-3639.1993.tb00764.x
By:
- Leppert, Mark;
- McMahon, William M.;
- Quattlebaum, Thomas G.;
- Bjerre, Ingrid;
- Zonana, Jonathan;
- Shevell, Michael I.;
- Andermann, Eva;
- Rosales, Teodoro O.;
- Ronen, Gabriel M.;
- Connolly, Mary;
- Anderson, V. Elving
Publication type:
Article
Familial focal epilepsy with focal cortical dysplasia due to DEPDC 5 mutations.
Published in:
Annals of Neurology, 2015, v. 77, n. 4, p. 675, doi. 10.1002/ana.24368
By:
- Baulac, Stéphanie;
- Ishida, Saeko;
- Marsan, Elise;
- Miquel, Catherine;
- Biraben, Arnaud;
- Nguyen, Dang Khoa;
- Nordli, Doug;
- Cossette, Patrick;
- Nguyen, Sylvie;
- Lambrecq, Virginie;
- Vlaicu, Mihaela;
- Daniau, Maïlys;
- Bielle, Franck;
- Andermann, Eva;
- Andermann, Frederick;
- Leguern, Eric;
- Chassoux, Francine;
- Picard, Fabienne
Publication type:
Article
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Published in:
2015
By:
- Baulac, Stéphanie;
- Ishida, Saeko;
- Marsan, Elise;
- Miquel, Catherine;
- Biraben, Arnaud;
- Nguyen, Dang Khoa;
- Nordli, Doug;
- Cossette, Patrick;
- Nguyen, Sylvie;
- Lambrecq, Virginie;
- Vlaicu, Mihaela;
- Daniau, Maïlys;
- Bielle, Franck;
- Andermann, Eva;
- Andermann, Frederick;
- Leguern, Eric;
- Chassoux, Francine;
- Picard, Fabienne
Publication type:
Journal Article
Rare copy number variants are an important cause of epileptic encephalopathies.
Published in:
Annals of Neurology, 2011, v. 70, n. 6, p. 974, doi. 10.1002/ana.22645
By:
- Mefford, Heather C.;
- Yendle, Simone C.;
- Hsu, Cynthia;
- Cook, Joseph;
- Geraghty, Eileen;
- McMahon, Jacinta M.;
- Eeg-Olofsson, Orvar;
- Sadleir, Lynette G.;
- Gill, Deepak;
- Ben-Zeev, Bruria;
- Lerman-Sagie, Tally;
- Mackay, Mark;
- Freeman, Jeremy L.;
- Andermann, Eva;
- Pelakanos, James T.;
- Andrews, Ian;
- Wallace, Geoffrey;
- Eichler, Evan E.;
- Berkovic, Samuel F.;
- Scheffer, Ingrid E.
Publication type:
Article
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations.
Published in:
Annals of Neurology, 2003, v. 54, n. 1, p. 30
By:
- Renzo Guerrini;
- Francesca Moro;
- Eva Andermann;
- Elaine Hughes;
- Daniela D'Agostino;
- Romeo Carrozzo;
- Andrea Bernasconi;
- Frances Flinter;
- Lucio Parmeggiani;
- Anna Volzone;
- Elena Parrini;
- Davide Mei;
- Jozef M. Jarosz;
- Robin G. Morris;
- Polly Pratt;
- Gaetano Tortorella;
- François Dubeau;
- Frederick Andermann;
- William B. Dobyns;
- Soma Das
Publication type:
Article
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.
Published in:
Annals of Neurology, 2003, v. 53, n. 1, p. 144
By:
- François Gros-Louis;
- Inge A. Meijer;
- Collette K. Hand;
- Marie-Pierre Dubé;
- Daune L. MacGregor;
- Marie-Hélène Seni;
- Rebecca S. Devon;
- Michael R. Hayden;
- Frederick Andermann;
- Eva Andermann;
- Guy A. Rouleau
Publication type:
Article
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 7, p. 1417, doi. 10.1093/hmg/dds558
By:
- Smith, Katherine R.;
- Dahl, Hans-Henrik M.;
- Canafoglia, Laura;
- Andermann, Eva;
- Damiano, John;
- Morbin, Michela;
- Bruni, Amalia C.;
- Giaccone, Giorgio;
- Cossette, Patrick;
- Saftig, Paul;
- Grötzinger, Joachim;
- Schwake, Michael;
- Andermann, Frederick;
- Staropoli, John F.;
- Sims, Katherine B.;
- Mole, Sara E.;
- Franceschetti, Silvana;
- Alexander, Noreen A.;
- Cooper, Jonathan D.;
- Chapman, Harold A.
Publication type:
Article
History of Joubert Syndrome and a 30-Year Follow-Up of the Original Proband.
Published in:
Journal of Child Neurology, 1999, v. 14, n. 9, p. 565
By:
- Andermann, Frederick;
- Andermann, Eva;
- Ptito, Alain;
- Fontaine, Suzanne;
- Joubert, Marie
Publication type:
Article
Evidence of a Third Locus for Benign Familial Convulsions.
Published in:
Journal of Child Neurology, 1996, v. 11, n. 3, p. 211, doi. 10.1177/088307389601100310
By:
- Lewis, Tracey B.;
- Shevell, Michael I.;
- Andermann, Eva;
- Ryan, Stephen G.;
- Leach, Robin J.
Publication type:
Article
Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion.
Published in:
Annals of Neurology, 1997, v. 41, n. 5, p. 675, doi. 10.1002/ana.410410518
By:
- Montermini, Laura;
- Richeter, Andrea;
- Morgan, Kenneth;
- Justice, Cristina M.;
- Julien, Dominique;
- Castellotti, Barbara;
- Mercier, Jocelyne;
- Poirier, Josée;
- Capozzoli, Fiorentino;
- Bouchard, Jean-Pierre;
- Lemieux, Bernard;
- Mathieu, Jean;
- Vanasse, Michel;
- Seni, Marie-Hélene;
- Graham, Gail;
- Andermann, Frederick;
- Andermann, Eva;
- Melançon, Serge B.;
- Keats, Bronya J. B.;
- Di Donato, Stefano
Publication type:
Article
Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results.
Published in:
Annals of Neurology, 1995, v. 37, n. 4, p. 476, doi. 10.1002/ana.410370410
By:
- Palmini, André;
- Gambardella, Antonio;
- Andermann, Frederick;
- Dubeau, Francois;
- da Costa, Jaderson C.;
- Olivier, André;
- Tampieri, Donatella;
- Gloor, Pierre;
- Quesney, Felipe;
- Andermann, Eva;
- Paglioli, Eduardo;
- Paglioli-Neto, Eliseu;
- Andermann, Ligia Coutinho;
- Leblanc, Richard;
- Kim, Hyoung-Ihl
Publication type:
Article
Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency.
Published in:
Annals of Neurology, 1993, v. 34, n. 3, p. 399, doi. 10.1002/ana.410340316
By:
- Bye, Annie M. E.;
- Andermann, Frederick;
- Robitaille, Yves;
- Oliver, M.;
- Bohane, T.;
- Andermann, Eva
Publication type:
Article
Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients.
Published in:
1991
By:
- Palmini, André;
- Andermann, Frederick;
- Olivier, André;
- Tampieri, Donatella;
- Robitaille, Yvon;
- Andermann, Eva;
- Wright, Geoffrey;
- Palmini, A;
- Andermann, F;
- Olivier, A;
- Tampieri, D;
- Robitaille, Y;
- Andermann, E;
- Wright, G
Publication type:
journal article
Mitochondrial dysfunction in multiple symmetrical lipomatosis.
Published in:
Annals of Neurology, 1991, v. 29, n. 5, p. 566, doi. 10.1002/ana.410290519
By:
- Berkovic, Samuel F.;
- Andermann, Frederick;
- Shoubridge, Eric A.;
- Carpenter, Stirling;
- Robitaille, Yvon;
- Andermann, Eva;
- Melmed, Calvin;
- Karpati, George
Publication type:
Article

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