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by Nicolas, Aude and Kenna, Kevin P and Kenna, Aoife and Kenna, Kevin and Kenna, Brendan J and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Logullo, Francesco O and Simone, Isabella and Simone, Isabella L and Logroscino, Giancarlo and Salvi, Fabrizio and Bartolomei, Ilaria and Borghero, Giuseppe and Murru, Maria Rita and Costantino, Emanuela and Pani, Carla and Puddu, Roberta and Caredda, Carla and Piras, Valeria and Tranquilli, Stefania and Cuccu, Stefania and Corongiu, Daniela and Melis, Maurizio and Milia, Antonio and Marrosu, Francesco and Marrosu, Maria Giovanna and Floris, Gianluca and Cannas, Antonino and Capasso, Margherita and Caponnetto, Claudia and Mancardi, Gianluigi and Origone, Paola and Mandich, Paola and Conforti, Francesca L and Cavallaro, Sebastiano and Mora, Gabriele and Mora, Jesús S and Marinou, Kalliopi and Sideri, Riccardo and Penco, Silvana and Mosca, Lorena and Lunetta, Christian and Pinter, Giuseppe Lauria and Corbo, Massimo and Riva, Nilo and Carrera, Paola and Volanti, Paolo and Mandrioli, Jessica and Fini, Nicola and Fasano, Antonio and Tremolizzo, Lucio and Arosio, Alessandro and Ferrarese, Carlo and Trojsi, Francesca and Tedeschi, Gioacchino and Monsurrò, Maria Rosaria and Piccirillo, Giovanni and Femiano, Cinzia and Ticca, Anna and Ortu, Enzo and La Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Sabatelli, Mario and Zollino, Marcella and Conte, Amelia and Luigetti, Marco and Lattante, Serena and Santarelli, Marialuisa and Petrucci, Antonio and Pugliatti, Maura and Pirisi, Angelo and Parish, Leslie D and Occhineri, Patrizia and Giannini, Fabio and Battistini, Stefania and Ricci, Claudia and Benigni, Michele and Cau, Tea B and ... and Genomic Translation ALS Care GTAC and ALS Sequencing Consortium and Clinical Res ALS Related Disorders and NYGC ALS Consortium and ITALSGEN Consortium and SLAGEN Consortium and French ALS Consortium and Project MinE ALS Sequencing Consor and Answer ALS Fdn and Project MinE ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
Journal Article
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, 04/2019, Volume 20, Issue 3-4, pp. 275 - 277
Background: Amyotrophic lateral sclerosis is the most frequent motor neuron disorders (MND) in adults. The role of genetic factors is worldwide accepted, and... 
next-generation sequencing | Amyotrophic lateral sclerosis | GARS | CLINICAL NEUROLOGY | KIF5A
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2019, Volume 90, Issue 8, pp. 861 - 869
ObjectiveA hallmark of amyotrophic lateral sclerosis (ALS) caused by mutations in superoxide dismutase-1 (SOD1) are inclusions containing SOD1 in motor... 
Pathology | Spinal cord | Disease | Neurodegeneration | Neurons | Pathogenesis | Genes | Amyotrophic lateral sclerosis | Mutation | KIF5A | neuronal inclusions | 1506 | amyotrophic lateral sclerosis | superoxide dismutase-1 | C9orf72
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 01/2019, Volume 73, pp. 229.e1 - 229.e4
Amyotrophic lateral sclerosis (ALS) is an age-related fatal neurodegenerative orphan disorder that is characterized by progressive injury of both the upper and... 
Amyotrophic lateral sclerosis | KIF5A | Mutation | CRITERIA | CONSENSUS | SPECTRUM | NEUROSCIENCES | EPIDEMIOLOGY | GERIATRICS & GERONTOLOGY | Medical colleges | Neurosciences | Analysis | Genomics | Medical genetics | Amino acids | Genetic aspects | Dementia
Journal Article
Brain, ISSN 0006-8950, 03/2018, Volume 141, Issue 3, pp. 688 - 697
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 4/2003, Volume 161, Issue 1, pp. 55 - 66
To test the hypothesis that fast anterograde molecular motor proteins power the slow axonal transport of neurofilaments (NFs), we used homologous recombination... 
Axons | Motor neurons | Spinal cord | Neurons | Nerves | Sensory neurons | Antibodies | Mice | Spinal Nerve roots | Sciatic nerve | Neurofilament | DRG sensory neuron | Axonal caliber | Slow axonal transport | Neuronal kinesin heavy chain KIF5A | SLOW AXONAL-TRANSPORT | neuronal kinesin heavy chain KIF5A | MOUSE | CELL BIOLOGY | CYTOSKELETAL PROTEINS | slow axonal transport | GENE | neurofilament | NF-H | MOTOR | EXPRESSION | BRAIN | axonal caliber | TRANSGENIC MICE | SUBUNIT | Immunohistochemistry | Axonal Transport - genetics | Seizures - genetics | Microtubule-Associated Proteins - genetics | Seizures - metabolism | Viral Proteins | Brain - abnormalities | Brain - growth & development | Peripheral Nerves - abnormalities | Nerve Degeneration - metabolism | Brain - metabolism | Nerve Fibers, Myelinated - pathology | Neurons, Afferent - pathology | Peripheral Nerves - metabolism | Microtubule-Associated Proteins - deficiency | Ganglia, Spinal - abnormalities | Animals, Newborn | Nerve Fibers, Myelinated - metabolism | Transgenes - genetics | Axons - metabolism | Mice, Transgenic | Mutation - genetics | Peripheral Nerves - pathology | Nerve Degeneration - pathology | Integrases | Animals | Axons - pathology | Ganglia, Spinal - pathology | Neurons, Afferent - metabolism | Neurofilament Proteins - metabolism | Ganglia, Spinal - metabolism | Proteins | Influence | Cytoplasmic filaments | Research | Cellular biology | Index Medicus | slow axonal transport; neuronal kinesin heavy chain KIF5A; neurofilament; axonal caliber; DRG sensory neuron
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 07/2019, Volume 127, pp. 410 - 418
Mitochondria are crucial organelles for neurophysiology and brain mitochondrial defects constitute a characteristic of Alzheimer's disease (AD). Impaired... 
Axonal mitochondrial motility | Amyloid beta | Anterograde transport | Alzheimer's disease | KIF5A | ALZHEIMERS-DISEASE | MOLECULAR MOTORS | TAU | NEUROSCIENCES | TRANSPORT | SYNAPTIC DEGENERATION | KIFSA | A-BETA | DYNAMICS | SUPERFAMILY MOTOR PROTEINS | PRECURSOR PROTEIN | KINESIN HEAVY-CHAIN | Neurons | Neurophysiology
Journal Article