Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (137) 137
life sciences & biomedicine (129) 129
humans (121) 121
female (88) 88
male (83) 83
neurosciences & neurology (68) 68
neurology (64) 64
genetics & heredity (62) 62
mutation (60) 60
biological and medical sciences (56) 56
medical sciences (55) 55
clinical neurology (53) 53
epilepsy (52) 52
adult (51) 51
pedigree (51) 51
neurosciences (44) 44
adolescent (42) 42
child (40) 40
life sciences (39) 39
genetics (37) 37
middle aged (36) 36
genetic aspects (33) 33
charcot-marie-tooth disease - genetics (31) 31
genes (30) 30
nervous system (30) 30
animals (27) 27
child, preschool (24) 24
degenerative and inherited degenerative diseases of the nervous system. leukodystrophies. prion diseases (24) 24
young adult (24) 24
molecular sequence data (23) 23
aged (22) 22
gene mutations (22) 22
headache. facial pains. syncopes. epilepsia. intracranial hypertension. brain oedema. cerebral palsy (22) 22
phenotype (22) 22
human medicine (21) 21
mutation - genetics (20) 20
seizures (19) 19
dna mutational analysis (18) 18
genetic research (18) 18
research (18) 18
abridged index medicus (17) 17
amino acid sequence (17) 17
charcot-marie-tooth disease (17) 17
chromosome mapping (17) 17
human genetics (17) 17
genotype (16) 16
age of onset (14) 14
analysis (14) 14
base sequence (14) 14
epilepsy - genetics (14) 14
infant (14) 14
mice (14) 14
neurons and cognition (14) 14
genomics (13) 13
proteins (13) 13
proteins - genetics (13) 13
amyotrophic lateral sclerosis - genetics (12) 12
biochemistry & molecular biology (12) 12
fundamental and applied biological sciences. psychology (12) 12
nerve tissue proteins - genetics (12) 12
polymerase chain reaction (12) 12
risk factors (12) 12
epilepsies, myoclonic - genetics (11) 11
family (11) 11
heterozygote (11) 11
physiological aspects (11) 11
seizures, febrile - genetics (11) 11
amyotrophic lateral sclerosis (10) 10
gene deletion (10) 10
genetics of eukaryotes. biological and molecular evolution (10) 10
genomes (10) 10
lod score (10) 10
mesh: humans (10) 10
molecular and cellular biology (10) 10
[sdv.neu]life sciences [q-bio]/neurons and cognition [q-bio.nc] (9) 9
aged, 80 and over (9) 9
biology (9) 9
dna-binding proteins - genetics (9) 9
epilepsy, generalized - genetics (9) 9
family health (9) 9
genes, recessive (9) 9
genetic linkage (9) 9
medical genetics (9) 9
mutation, missense (9) 9
charcot-marie-tooth disease - physiopathology (8) 8
cohort studies (8) 8
diagnosis (8) 8
exons (8) 8
exons - genetics (8) 8
france (8) 8
genetic markers (8) 8
genetic predisposition to disease (8) 8
geriatrics & gerontology (8) 8
mesh: adult (8) 8
mesh: female (8) 8
mesh: male (8) 8
mesh: mutation (8) 8
mice, knockout (8) 8
motor neuron disease (8) 8
multidisciplinary sciences (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Mutations of DEPDC5 cause autosomal dominant focal epilepsies
by Ishida, Saeko and Picard, Fabienne and Rudolf, Gabrielle and Noé, Eric and Achaz, Guillaume and Thomas, Pierre and Genton, Pierre and Mundwiller, Emeline and Wolff, Markus and Marescaux, Christian and Miles, Richard and Baulac, Michel and Hirsch, Edouard and Leguern, Eric and Baulac, Stéphanie
Nature genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 552 - 555
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsies, Partial - diagnosis | Humans | Middle Aged | Molecular Sequence Data | Male | Case-Control Studies | Brain - metabolism | Young Adult | Adult | Female | Child | Genetic Linkage | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Guanine Nucleotide Exchange Factors - genetics | Computational Biology | Genotype | Mutation - genetics | Sequence Homology, Amino Acid | Exome - genetics | Pedigree | Adolescent | Brain - pathology | Epilepsies, Partial - genetics | Genome, Human | Cohort Studies | Genetic aspects | Research | Gene mutations | Health aspects | Epilepsy | Risk factors | Proteins | Genetics | Mutation | Genes | Index Medicus | Life Sciences | Biodiversity
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents
by Khetarpal, Sumeet A and Schjoldager, Katrine T and Christoffersen, Christina and Raghavan, Avanthi and Edmondson, Andrew C and Reutter, Heiko M and Ahmed, Bouhouche and Ouazzani, Reda and Peloso, Gina M and Vitali, Cecilia and Zhao, Wei and Somasundara, Amritha Varshini Hanasoge and Millar, John S and Park, YoSon and Fernando, Gayani and Livanov, Valentin and Choi, Seungbum and Noé, Eric and Patel, Pritesh and Ho, Siew Peng and Kirchgessner, Todd G and Wandall, Hans H and Hansen, Lars and Bennett, Eric P and Vakhrushev, Sergey Y and Saleheen, Danish and Kathiresan, Sekar and Brown, Christopher D and Abou Jamra, Rami and LeGuern, Eric and Clausen, Henrik and Rader, Daniel J and Myocardial Infarction Exome Sequencing Study and Myocardial Infarction Exome
Cell metabolism, ISSN 1550-4131, 08/2016, Volume 24, Issue 2, pp. 234 - 245
Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Liver - enzymology | Humans | Glycoproteins - metabolism | Lipoproteins, HDL - metabolism | Gene Knockdown Techniques | Phospholipid Transfer Proteins - metabolism | Angiopoietin-like Proteins | Base Sequence | N-Acetylgalactosaminyltransferases - genetics | Primates | Models, Animal | N-Acetylgalactosaminyltransferases - chemistry | N-Acetylgalactosaminyltransferases - metabolism | Amino Acid Sequence | N-Acetylgalactosaminyltransferases - deficiency | Angiopoietins - metabolism | Rats | Mutation - genetics | Mice, Knockout | Triglycerides - metabolism | Homozygote | Phenotype | Animals | Proteomics | Cholesterol, HDL - blood | Polymorphism, Single Nucleotide - genetics | Mice | Medical colleges | Analysis | Rodents | Physiological aspects | Blood lipids | Population genetics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epilepsy Phenome/Genome Project and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project
American journal of human genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fatty Acid Synthase, Type I - genetics | Receptors, GABA-B - genetics | Synaptic Transmission - genetics | Humans | Male | Spasms, Infantile - genetics | Gene Regulatory Networks | Mutation - genetics | Dynamin I - genetics | Lennox Gastaut Syndrome - genetics | Protein Interaction Maps | Exome - genetics | Ryanodine Receptor Calcium Release Channel - genetics | Female | Infant, Newborn | Cohort Studies | Genetic research | Genetic aspects | Research | Gene mutations | Epilepsy | Proteins | Consortia | Genetic disorders | Mutation | Genomics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text PCDH19‐related infantile epileptic encephalopathy: An unusual X‐linked inheritance disorder
by Depienne, Christel and LeGuern, Eric
Human mutation, ISSN 1059-7794, 04/2012, Volume 33, Issue 4, pp. 627 - 634
epilepsy | X‐linked | male sparing | cellular interference | PCDH19 | females | X-linked | Cellular interference | Females | Epilepsy | Male sparing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, X-Linked | Cadherins - metabolism | Humans | Epilepsy - genetics | Female | Male | Mutation | Cadherins - genetics | Epilepsy - etiology | Epilepsy - diagnosis | Polymorphism, Genetic | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Cadherins
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes
by Landoulsi, Zied and Laatar, Fatma and Noé, Eric and Mrabet, Saloua and Ben Djebara, Mouna and Achaz, Guillaume and Nava, Caroline and Baulac, Stéphanie and Kacem, Imen and Gargouri-Berrechid, Amina and Gouider, Riadh and Leguern, Eric
Neurogenetics, ISSN 1364-6745, 8/2018, Volume 19, Issue 3, pp. 165 - 178
Human Genetics | Neurosciences | Biomedicine | MAST4 | Genetic generalized epilepsy | Molecular Medicine | Polygenic inheritance | Gene panel | CACNA1H | SCN1A | Clinical Neurology | Genetics & Heredity | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medical research | Anopheles | Genes | Epilepsy | Genetic research | Medicine, Experimental | Disease susceptibility | Seizures (Medicine) | Phenotypes | Heredity | Genetic factors | Children | Mutation | Population genetics | Seizures
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy
by Ribierre, Théo and Deleuze, Charlotte and Bacq, Alexandre and Baldassari, Sara and Marsan, Elise and Chipaux, Mathilde and Muraca, Giuseppe and Roussel, Delphine and Navarro, Vincent and Leguern, Eric and Miles, Richard and Baulac, Stéphanie
The Journal of clinical investigation, ISSN 0021-9738, 06/2018, Volume 128, Issue 6, pp. 2452 - 2458
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dendrites - pathology | Neurons - pathology | Humans | Spine - metabolism | Male | GTPase-Activating Proteins - metabolism | Mechanistic Target of Rapamycin Complex 1 - genetics | Mice, Mutant Strains | Germ-Line Mutation | Female | Neurons - metabolism | Malformations of Cortical Development - pathology | Spine - pathology | Repressor Proteins - metabolism | Dendrites - metabolism | Malformations of Cortical Development - metabolism | Repressor Proteins - genetics | Malformations of Cortical Development - genetics | Epilepsies, Partial - pathology | Mechanistic Target of Rapamycin Complex 1 - metabolism | Epilepsies, Partial - metabolism | Animals | CRISPR-Cas Systems | Epilepsies, Partial - genetics | Mice | GTPase-Activating Proteins - genetics | CRISPR | Cardiac arrhythmia | Dysplasia | Epilepsy | Genes | Cortex | Case reports | Electroporation | Amino acids | Genomes | Chemoreception | Drug resistance | Proteins | Dendritic spines | Surgery | Rodents | Mosaicism | Genetic engineering | Mutation | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
by Baulac, Stéphanie and Ishida, Saeko and Marsan, Elise and Miquel, Catherine and Biraben, Arnaud and Nguyen, Dang Khoa and Nordli, Doug and Cossette, Patrick and Nguyen, Sylvie and Lambrecq, Virginie and Vlaicu, Mihaela and Daniau, Maïlys and Bielle, Franck and Andermann, Eva and Andermann, Frederick and Leguern, Eric and Chassoux, Francine and Picard, Fabienne
Annals of neurology, ISSN 0364-5134, 04/2015, Volume 77, Issue 4, pp. 675 - 683
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epilepsies, Partial - diagnosis | Humans | Middle Aged | Repressor Proteins - genetics | Male | Malformations of Cortical Development - genetics | Mutation - genetics | Young Adult | Malformations of Cortical Development - diagnosis | Pedigree | Adolescent | Adult | Female | Epilepsies, Partial - genetics | Child | Drug resistance | Epilepsy | Mutation | Index Medicus | Neuroscience | Cognitive science
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text The landscape of epilepsy-related GATOR1 variants
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 398 - 408
Genetic focal epilepsy | mTORC1 pathway | Focal cortical dysplasia | SUDEP | DEPDC5 | Genetics(clinical) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Brugada Syndrome - genetics | Seizures - genetics | Brugada Syndrome - physiopathology | Humans | Child, Preschool | INDEL Mutation - genetics | Infant | Male | Multiprotein Complexes - genetics | Epilepsy - physiopathology | Seizures - complications | Epilepsy - epidemiology | Seizures - physiopathology | Mechanistic Target of Rapamycin Complex 1 - genetics | Tumor Suppressor Proteins - genetics | Epilepsy - genetics | Female | Child | Infant, Newborn | Brugada Syndrome - mortality | Genetic Predisposition to Disease | Repressor Proteins - genetics | DNA Copy Number Variations - genetics | Signal Transduction - genetics | Epilepsy - complications | Pedigree | Seizures - epidemiology | Adolescent | GTPase-Activating Proteins - genetics | Loss of Function Mutation - genetics | Convulsions & seizures | Epilepsy | Index Medicus | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
by Teyssou, Elisa and Takeda, Takahiro and Lebon, Vincent and Boillée, Séverine and Doukouré, Brahima and Bataillon, Guillaume and Sazdovitch, Véronique and Cazeneuve, Cécile and Meininger, Vincent and LeGuern, Eric and Salachas, François and Seilhean, Danielle and Millecamps, Stéphanie
Acta neuropathologica, ISSN 0001-6322, 4/2013, Volume 125, Issue 4, pp. 511 - 522
Pathology | Neurosciences | Medicine & Public Health | Neuropathology | Motor neuron disease | Paget’s disease | FTLD–ALS | p62 | Familial and sporadic ALS | FTLD-ALS | Paget's disease | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sequestosome-1 Protein | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Ubiquitin - metabolism | Male | Ubiquitin - genetics | DNA-Binding Proteins - genetics | DNA-Binding Proteins - metabolism | Amyotrophic Lateral Sclerosis - pathology | Adaptor Proteins, Signal Transducing - genetics | Aged, 80 and over | Brain - pathology | Adult | Female | Heterozygote | Aged | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Ubiquitin | Amyotrophic lateral sclerosis | Genetic aspects | Gene mutations | Analysis | Genes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights