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JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 10/2019, Volume 218, Issue 10, pp. 3290 - 3306
Journal Article
Nature Neuroscience, ISSN 1097-6256, 11/2010, Volume 13, Issue 11, pp. 1380 - 1387
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 05/2018, Volume 217, Issue 5, pp. 1719 - 1738
During neural circuit assembly, extrinsic signals are integrated into changes in growth cone (GC) cytoskeleton underlying axon guidance decisions. Microtubules... 
CYTOPLASMIC DYNEIN | SEVERING ENZYMES | AAA ATPASES | GROWTH CONES | NEURITE OUTGROWTH | HEREDITARY SPASTIC PARAPLEGIA | STRUCTURAL BASIS | IN-VIVO | DEVELOPING NEURONAL CELLS | BINDING-PROTEINS | CELL BIOLOGY
Journal Article
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 05/2018, Volume 217, Issue 5, p. 1719
During neural circuit assembly, extrinsic signals are integrated into changes in growth cone (GC) cytoskeleton underlying axon guidance decisions. Microtubules... 
Enzymes | Adenosine | Navigation | Transcription | Circuits | Zebrafish | Motors | Meiosis | Remodeling | Mode of action | Proteins | Depolymerization | Wiring | Locomotion | Triphosphatase | Morphology | Microtubules | Isoforms | Cytoskeleton | Axon guidance | Cytoplasm | Adenosine triphosphatase
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 07/2016, Volume 21, Issue 7, pp. 936 - 945
Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by marked genetic heterogeneity. Recent studies of rare structural and... 
NEURONAL MIGRATION | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | CORTICAL INTERNEURON MIGRATION | PERIRHINAL CORTEX | FRAGILE-X | SPECTRUM DISORDERS | HYPEREKPLEXIA MUTATIONS | NEUROSCIENCES | PREFRONTAL CORTEX | GABA | RECEPTOR ACTIVATION | RECOGNITION MEMORY | Glycine - genetics | Glycine - metabolism | Synaptic Transmission - physiology | Autistic Disorder - metabolism | Humans | Mice, Inbred C57BL | Child, Preschool | Neuronal Plasticity - drug effects | Male | Zebrafish | Animals | Long-Term Potentiation - drug effects | Signal Transduction - drug effects | Autism Spectrum Disorder - metabolism | Adolescent | Adult | Mice | Neurogenesis - drug effects | Neurons - metabolism | Receptors, Glycine - metabolism | Child | Receptors, Glycine - genetics | Autism | Physiology, Pathological | Genetic aspects | Glycine receptors | Analysis | Life Sciences | Human health and pathology | Genetics | Neurons and Cognition | Psychiatrics and mental health | rare variants | Morris water maze | de novo | prefrontal cortex | functional analysis | X chromosome | α2 subunit | repetitive behaviors | axon branching | whole-cell recording | sequencing | rescue analyses | GLRA2 | glycine receptor | deletion | mutation screening | social interaction | immunohistochemistry | knock-out mice | rotarod | long term potentiation | site-directed mutagenesis | biotinylation | glycinergic signaling | novel object recognition | loss of function | Autism spectrum disorder | excitatory-inhibitory imbalance | mutation | microarray | language delay | learning and memory | electrophysiology | interneuron | locomotor activity | synaptic plasticity | zebrafish | intellectual disability | Psykiatri | Psychiatry
Journal Article
Disease Models & Mechanisms, ISSN 1754-8403, 01/2013, Volume 6, Issue 1, pp. 72 - 83
Mutations in SPG4, encoding the microtubule-severing protein spastin, are responsible for the most frequent form of hereditary spastic paraplegia (HSP), a... 
Life Sciences | Cellular Biology
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 08/2013, Volume 202, Issue 3, p. 527
  Mechanisms coordinating endosomal degradation and recycling are poorly understood, as are the cellular roles of microtubule (MT) severing. We show that cells... 
Proteins | Genotype & phenotype | Zebrafish | Mutation | Cells
Journal Article
by Coutelier, Marie and Hammer, Monia B and Stevanin, Giovanni and Monin, Marie-Lorraine and Davoine, Claire-Sophie and Mochel, Fanny and Labauge, Pierre and Ewenczyk, Claire and Ding, Jinhui and Gibbs, J. Raphael and Hannequin, Didier and Melki, Judith and Toutain, Annick and Laugel, Vincent and Forlani, Sylvie and Charles, Perrine and Broussolle, Emmanuel and Thobois, Stéphane and Afenjar, Alexandra and Anheim, Mathieu and Calvas, Patrick and Castelnovo, Giovanni and De Broucker, Thomas and Vidailhet, Marie and Moulignier, Antoine and Ghnassia, Robert T and Tallaksen, Chantal and Mignot, Cyril and Goizet, Cyril and Le Ber, Isabelle and Ollagnon-Roman, Elisabeth and Pouget, Jean and Brice, Alexis and Singleton, Andrew and Durr, Alexandra and Belarabi, Soraya and Hamri, Abdelmadjid and Tazir, Meriem and Boesch, Sylvia and Pandolfo, Massimo and Ullmann, Urielle and Jardim, Laura and Guergueltcheva, Velina and Tournev, Ivalo and Soong, Bing-Wen and Linarès, Olga Lucia Pedraza and Nielsen, Jørgen E and Svenstrup, Kirsten and Zaki, Maha and Azulay, Jean-Philippe and Banneau, Guillaume and Boesfplug-Tanguy, Odile and Burgo, Andrea and Cazeneuve, Cécile and Darios, Frédéric and Depienne, Christel and Duyckaerts, Charles and Fontaine, Bertrand and Hazan, Jamilé and Koenig, Michel and Marelli, Cecilia and N'guyen, Karine and Rodriguez, Diana and Sittler, Annie and Verny, Christophe and Bauer, Peter and Schöls, Lüdger and Schüle, Rebecca and Koutsis, Georgios and Lossos, Alexander and Antenora, Antonella and Bassi, Maria Teresa and Basso, Manuela and Bertini, Enrico and Brusco, Alfredo and Casali, Carlo and Casari, Giorgio and Criscuolo, Chiara and Filla, Alessandro and Lieto, Maria and Orsi, Laura and Santorelli, Filippo M and Valente, Enza Maria and Vavla, Marinela and Vazza, Giovanni and Megarbane, André and Benomar, Ali and Roxburgh, Richard and Erichsen, Anne Kjersti and Alonso, Isabel and Coutinho, Paula and Loureiro, José Léal and Sequeiros, Jorge and Salih, Mustapha and Kostic, Vladimir S and Axpe, Idoia Rouco and Roumani, Samir and Kremer, Berry and Van Roon-Mom, Willeke and Boukhris, Amir and ... and Spastic Paraplegia Ataxia Network and Spastic Paraplegia and Ataxia Network and for the Spastic Paraplegia and Ataxia Network
JAMA Neurology, ISSN 2168-6149, 05/2018, Volume 75, Issue 5, pp. 591 - 599
IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In... 
PHENOTYPE | FRAMEWORK | DIAGNOSIS | CLINICAL NEUROLOGY | FEATURES | Life Sciences | Online First | Original Investigation | Research
Journal Article
Nature Genetics, ISSN 1061-4036, 11/1999, Volume 23, Issue 3, pp. 296 - 303
Journal Article
Nature, ISSN 0028-0836, 03/1996, Volume 380, Issue 6570, pp. 152 - 154
The great increase in successful linkage studies in a number of higher eukaryotes during recent years has essentially resulted from major improvements in... 
MULTIDISCIPLINARY SCIENCES | Algorithms | Humans | Molecular Sequence Data | Genotype | Chromosome Mapping | Chromosomes, Human, Pair 22 | Genome, Human | Microsatellite Repeats | Genetic Linkage | Chromosome mapping | Genetic aspects | Research | Human beings | Genetics | Genes
Journal Article