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Atherosclerosis, ISSN 0021-9150, 2014, Volume 236, Issue 1, pp. 54 - 61
Journal Article
by Jhangiani, Shalini N and Sabo, Aniko and Mathew, Tittu and Ding, Li and Broderick, Stephen and Hanna, Megan and Zhao, Xiaojun and Zhang, Qunyuan and Tang, Yuzhu and Weinstock, George M and Hawes, Alicia C and Milosavljevic, Aleksandar and Scherer, Steven E and Ladanyi, Marc and Hall, Otis and Haipek, Carrie and Tonon, Giovanni and Crosby, Seth D and Yoshizawa, Akihiko and Koboldt, Daniel C and Lander, Eric S and Baldwin, Jennifer and Yao, Jiqiang and Fulton, Lucinda and Abbott, Rachel and Metcalf, Ginger A and Meyer, Rick and Sawyer, Christopher S and Shen, Hua and Zhu, Yiming and Dunford-Shore, Brian H and Winckler, Wendy and Dutt, Amit and Muzny, Donna M and Fewell, Ginger and Mardis, Elaine R and Fulton, Robert S and Meyerson, Matthew and Pohl, Craig and Miner, Tracie L and Gabriel, Stacey B and Larson, David E and Clerc, Kerstin and Schmidt, Heather and Province, Michael A and Thomas, Roman K and Getz, Gad and Beer, David G and Sander, Sacha and Travis, William D and Osborne, John R and Robinson, Jody and Orringer, Mark B and Ng, Brian and Chen, Ken and Kraja, Aldi and Ren, Yanru and Roth, Jack A and Sougnez, Carrie and McLellan, Michael D and Lawrence, Michael S and Wistuba, Ignacio I and Good, Peter J and Wheeler, David A and Morgan, Margaret B and Gonzalez-Garay, Manuel L and Zody, Michael C and Lin, Ling and Shi, Xiaoqi and Varmus, Harold E and Ziaugra, Liuda and Wilson, Richard K and Pao, William and Cibulskis, Kristian and Johnson, Bruce E and Weir, Barbara A and Fennell, Tim and Lewis, Lora R and Dooling, David J and Spitz, Margaret R and Chang, Andrew C and Vickery, Tammi and Gibbs, Richard A and Chirieac, Lucian R and Giordano, Thomas and Watson, Mark A and Onofrio, Robert C and Ozenberger, Bradley and Greulich, Heidi and Wendl, Michael C and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för medicinsk biokemi och mikrobiologi and Uppsala universitet
Nature, ISSN 0028-0836, 10/2008, Volume 455, Issue 7216, pp. 1069 - 1075
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 08/2018, Volume 28, Issue 8, pp. 639 - 645
Autosomal recessive Charcot–Marie–Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the... 
Autosomal | CMT4C | Homozygous | Demyelinating | PROTEIN | SERIES | MYELINATION | DEFORMITIES | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHROMOSOME 5Q23-Q33 | SH3TC2 GENE-MUTATIONS | NEUROPATHY | JAPAN | Medical records | Genetic aspects | Genetic disorders | Paralysis
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 01/2018, Volume 28, Issue 1, pp. 44 - 47
The neurofilament light polypeptide ( ) gene mutations cause mainly autosomal dominant Charcot–Marie–Tooth disease (CMT) and rarely the recessive forms of CMT.... 
Charcot–Marie–Tooth disease | NEFL | Autosomal recessive | Homozygous mutation | PHENOTYPE | LIGHT-CHAIN GENE | AXONAL NEUROPATHY | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | E396K MUTATION | Charcot-Marie-Tooth disease | ONSET | N98S MUTATION | Medical research | Gene mutations | Analysis | Genetic research | Medicine, Experimental | Genetic aspects | Teenage girls
Journal Article
Neuropathology, ISSN 0919-6544, 12/2017, Volume 37, Issue 6, pp. 582 - 585
Isocitrate dehydrogenase ( IDH1/IDH2 ) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations.... 
sequence analysis | isocitrate dehydrogenase | astrocytoma | DNA | homozygous point mutation | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic research | Genetic aspects | Gene mutations | Gliomas | Missense mutation | Glioma | Brain tumors | Glioblastoma | Point mutation | Mutation | Isocitrate dehydrogenase | Astrocytoma
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 11/2018, Volume 22, Issue 11, pp. 5533 - 5538
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2017, Volume 13, Issue 4, pp. e1006746 - e1006746
Journal Article
Journal Article
Blood, ISSN 0006-4971, 2016, Volume 127, Issue 25, pp. 3154 - 3164
Journal Article