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by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 10/2016, Volume 57, Issue 13, pp. 5361 - 5371
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 364 - 370
Journal Article
Skeletal Muscle, ISSN 2044-5040, 11/2011, Volume 1, Issue 1, pp. 34 - 34
Background: Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity... 
CELL BIOLOGY | Neuromuscular diseases | Care and treatment | Research | Gene therapy | Health aspects | Cells | Risk factors | Life Sciences | Neurons and Cognition
Journal Article
Annals of Neurology, ISSN 0364-5134, 1999, Volume 46, Issue 1, pp. 115 - 118
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We studied 7... 
CLINICAL-FEATURES | BUKHARA JEWS | NEUROSCIENCES | CLINICAL NEUROLOGY | NUCLEAR INCLUSIONS | Haplotypes | Age Distribution | Pharyngeal Muscles | Humans | Middle Aged | Male | Muscular Dystrophies - genetics | Homozygote | Phenotype | DNA Mutational Analysis | Pedigree | Age of Onset | Adult | Female | Oculomotor Muscles
Journal Article
ISSN 0002-9297, 2017
SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth... 
mutation | pigmentation | DSTYK | hereditary spastic paraplegia | deletion | gene | vitiligo | autosomal-recessive | Spastic Paraplegia 23 | whole-exome sequencing
Journal Article
Journal Article
ISRAEL MEDICAL ASSOCIATION JOURNAL, ISSN 1565-1088, 03/2002, Volume 4, Issue 3, pp. 163 - 165
Henri Bergson (1859-1941) was probably the most influential French philosopher at the turn of the twentieth century. In 1927 he was awarded the Nobel Prize for... 
somatic markers | Bergson | visual agnosia | MEDICINE, GENERAL & INTERNAL | Damasio | recognition | prosopagnosia | intuition | PREFRONTAL CORTEX | DAMAGE | Nobel Prize | Philosophy - history | Neurophysiology - history | United States | History, 20th Century | Humans | Psychopathology | France | Agnosia | Visual agnosia | Intuition | Prosopagnosia | Somatic markers | Recognition
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/1999, Volume 46, Issue 1, pp. 115 - 118
Journal Article
Epilepsia, ISSN 0013-9580, 1988, Volume 29, Issue 1, pp. 30 - 33
A 73-year-old patient with hyperglycemia and rheumatoid arthritis presented with attacks of involuntary lingual movements that were associated with pain at the... 
Electroencephalography | Epilepsy | Lingual seizures | Nonketotic hyperglycemia | Seizures | Movement | Pain | Humans | Tongue - physiopathology | Male | Aged | Epilepsy - physiopathology
Journal Article
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, ISSN 1748-2968, 2010, Volume 11, Issue 1-2, pp. 237 - 3
Journal Article