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2006, Etudes montaignistes, ISBN 2745313371, 272
Book
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2019, Volume 27, Issue 9, pp. 1406 - 1418
Currently only 25-30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | DISEASE | GENETICS & HEREDITY | E3 UBIQUITIN LIGASE | Ubiquitin | Phenotypes | Laboratories | Amino acids | Heredity | Neuropathy | Founder effect | Gene deletion | Genetic screening | Clonal deletion | Charcot-Marie-Tooth disease | Genetic analysis | Ataxia | Localization | Ubiquitin-protein ligase | Index Medicus
Journal Article
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN 1085-9489, 12/2018, Volume 23, Issue 4, pp. 338 - 339
Conference Proceeding
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 6677 - 10
Journal Article
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN 1085-9489, 09/2017, Volume 22, Issue 3, pp. 334 - 335
Conference Proceeding
Journal of the Peripheral Nervous System, ISSN 1085-9489, 03/2019, Volume 24, Issue 1, pp. 139 - 144
Neurofilaments are neuron‐specific intermediate filaments essential for the radial growth of axons during development and the maintenance of axonal diameter.... 
NEFL | neuropathy | Charcot‐Marie‐tooth | NGS | deafness | GENE-MUTATIONS | Charcot-Marie-tooth | NEUROSCIENCES | CLINICAL NEUROLOGY | N98S MUTATION | Deafness | Literature reviews | Phenotypes | Axonogenesis | Filaments | Intermediate filaments | Charcot-Marie-Tooth disease | Neurofilaments | Peripheral neuropathy | Genotypes | Hearing loss
Journal Article
French Studies: A Quarterly Review, ISSN 0016-1128, 2015, Volume 69, Issue 4, pp. 520 - 520
Journal Article
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN 1085-9489, 09/2016, Volume 21, Issue 3, pp. 278 - 278
Conference Proceeding
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN 1085-9489, 09/2017, Volume 22, Issue 3, pp. 341 - 341
Conference Proceeding
La Ricerca Folklorica, ISSN 0391-9099, 10/2012, Issue 66, pp. 133 - 142
Marie Czaplicka, Polish by birth and British by choice, was the first Western anthropologist to carry on extensive fieldwork in Siberia among the Tungus of the... 
INTERVENTI
Journal Article
Ricerca Folklorica, ISSN 0391-9099, 2012, Issue 66, pp. 133 - 142
Journal Article
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, ISSN 1085-9489, 12/2018, Volume 23, Issue 4, pp. 350 - 351
Conference Proceeding
The European Physical Journal C: Particles and Fields, ISSN 1434-6052, 2017, Volume 77, Issue 5, pp. 1 - 53
During 2015 the ATLAS experiment recorded $$3.8\,{\mathrm{fb}}^{-1}$$ 3.8 fb - 1 of proton–proton collision data at a centre-of-mass energy of... 
PHYSICS, PARTICLES & FIELDS | Collisions (Nuclear physics) | Protons | Data acquisition systems | Physics - High Energy Physics - Experiment | High Energy Physics - Phenomenology | Physics | PARTICLE ACCELERATORS | Regular - Experimental Physics | Fysik | Physical Sciences | Naturvetenskap | Natural Sciences
Journal Article
FRONTIERS IN PSYCHIATRY, ISSN 1664-0640, 01/2019, Volume 10, pp. 10 - 10
Journal Article
Journal Article
by Turcot, Valérie and Lu, Yingchang and Highland, Heather M and Schurmann, Claudia and Justice, Anne E and Fine, Rebecca S and Bradfield, Jonathan P and Esko, Tõnu and Giri, Ayush and Graff, Mariaelisa and Guo, Xiuqing and Hendricks, Audrey E and Karaderi, Tugce and Lempradl, Adelheid and Locke, Adam E and Mahajan, Anubha and Marouli, Eirini and Sivapalaratnam, Suthesh and Young, Kristin L and Alfred, Tamuno and Feitosa, Mary F and Masca, Nicholas G. D and Manning, Alisa K and Medina-Gomez, Carolina and Mudgal, Poorva and Ng, Maggie C. Y and Reiner, Alex P and Vedantam, Sailaja and Willems, Sara M and Winkler, Thomas W and Abecasis, Gonçalo and Aben, Katja K and Alam, Dewan S and Alharthi, Sameer E and Allison, Matthew and Amouyel, Philippe and Asselbergs, Folkert W and Auer, Paul L and Balkau, Beverley and Bang, Lia E and Barroso, Inês and Bastarache, Lisa and Benn, Marianne and Bergmann, Sven and Bielak, Lawrence F and Blüher, Matthias and Boehnke, Michael and Boeing, Heiner and Boerwinkle, Eric and Böger, Carsten A and Bork-Jensen, Jette and Bots, Michiel L and Bottinger, Erwin P and Bowden, Donald W and Brandslund, Ivan and Breen, Gerome and Brilliant, Murray H and Broer, Linda and Brumat, Marco and Burt, Amber A and Butterworth, Adam S and Campbell, Peter T and Cappellani, Stefania and Carey, David J and Catamo, Eulalia and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der I and Chowdhury, Rajiv and Christensen, Cramer and Chu, Audrey Y and Cocca, Massimiliano and Cook, James P and Corley, Janie and Corominas Galbany, Jordi and Cox, Amanda J and Crosslin, David S and Cuellar-Partida, Gabriel and D'Eustacchio, Angela and Danesh, John and Davies, Gail and Bakker, Paul I. W and Groot, Mark C. H and Mutsert, Renée and Deary, Ian J and Dedoussis, George and Demerath, Ellen W and Heijer, Martin and Hollander, Anneke I and Ruijter, Hester M and Dennis, Joe G and Denny, Josh C and Angelantonio, Emanuele and Drenos, Fotios and Du, Mengmeng and Dubé, Marie-Pierre and Dunning, Alison M and Easton, Douglas F and Edwards, Todd L and ... and Chd Exome Consortium and EPIC InterAct Consortium and Global Lipids Genetic Consortium and GoT2D Genes Consortium and MAGIC Investigators and Understanding Soc Sci Grp and ReproGen Consortium and Interval Study and Epic-Cvd Consortium and ExomeBP Consortium and T2D-Genes Consortium and INTERVAL Study and EPIC-CVD Consortium and EPIC InterAct Consortium and CHD Exome+ Consortium and Understanding Society Scientific Group and The MAGIC Investigators and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Allmänmedicin and Umeå universitet and Medicin
Nature Genetics, ISSN 1061-4036, 01/2018, Volume 50, Issue 1, pp. 26 - 35
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