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07/2010
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal... 
sialic acid | Amyloid | hIBM
Web Resource
by Klionsky, Daniel J and Abdalla, Fabio C and Abeliovich, Hagai and Abraham, Robert T and Acevedo-Arozena, Abraham and Adeli, Khosrow and Agholme, Lotta and Agnello, Maria and Agostinis, Patrizia and Aguirre-Ghiso, Julio A and Ahn, Hyung Jun and Ait-Mohamed, Ouardia and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akira, Shizuo and Al-Younes, Hesham M and Al-Zeer, Munir A and Albert, Matthew L and Albin, Roger L and Alegre-Abarrategui, Javier and Aleo, Maria Francesca and Alirezaei, Mehrdad and Almasan, Alexandru and Almonte-Becerril, Maylin and Amano, Atsuo and Amaravadi, Ravi K and Amarnath, Shoba and Amer, Amal O and Andrieu-Abadie, Nathalie and Anantharam, Vellareddy and Ann, David K and Anoopkumar-Dukie, Shailendra and Aoki, Hiroshi and Apostolova, Nadezda and Arancia, Giuseppe and Aris, John P and Asanuma, Katsuhiko and Asare, Nana Y.O and Ashida, Hisashi and Askanas, Valerie and Askew, David S and Auberger, Patrick and Baba, Misuzu and Backues, Steven K and Baehrecke, Eric H and Bahr, Ben A and Bai, Xue-Yuan and Bailly, Yannick and Baiocchi, Robert and Baldini, Giulia and Balduini, Walter and Ballabio, Andrea and Bamber, Bruce A and Bampton, Edward T.W and Juhász, Gábor and Bartholomew, Clinton R and Bassham, Diane C and Bast, Robert C and Batoko, Henri and Bay, Boon-Huat and Beau, Isabelle and Béchet, Daniel M and Begley, Thomas J and Behl, Christian and Behrends, Christian and Bekri, Soumeya and Bellaire, Bryan and Bendall, Linda J and Benetti, Luca and Berliocchi, Laura and Bernardi, Henri and Bernassola, Francesca and Besteiro, Sébastien and Bhatia-Kissova, Ingrid and Bi, Xiaoning and Biard-Piechaczyk, Martine and Blum, Janice S and Boise, Lawrence H and Bonaldo, Paolo and Boone, David L and Bornhauser, Beat C and Bortoluci, Karina R and Bossis, Ioannis and Bost, Frédéric and Bourquin, Jean-Pierre and Boya, Patricia and Boyer-Guittaut, Michaël and Bozhkov, Peter V and Brady, Nathan R and Brancolini, Claudio and Brech, Andreas and Brenman, Jay E and Brennand, Ana and Bresnick, Emery H and Brest, Patrick and Bridges, Dave and Bristol, Molly L and Brookes, Paul S and Brown, Eric J and Brumell, John H and ... and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Geriatrik and Institutionen för medicin och hälsa and Farmakologi and Experimentell patologi and Hälsouniversitetet and Cellbiologi
Autophagy, ISSN 1554-8627, 04/2012, Volume 8, Issue 4, pp. 445 - 544
Journal Article
PLoS genetics, ISSN 1553-7404, 05/2019, Volume 15, Issue 5, pp. e1008143 - e1008143
Maintenance of the correct redox status of iron is functionally important for critical biological processes. Multicopper ferroxidases play an important role in... 
Oxidases | Medicine, Experimental | Medical research | Genetic aspects | Iron compounds | RNA | Hair | Physiological aspects | Enzymes | Phenotype | Ceruloplasmin | Visualization | Transferrin | Laboratories | Funding | Cognitive ability | Homeostasis | Genomes | Iron | mRNA | Gene deletion | Missense mutation | Clonal deletion | Fibroblasts | Oxidation | Copper | Research centers | Supervision | Ferroxidase | Phenotypes | Splicing | Methionine | Metabolism | Lysyl oxidase | Pili | Software | Mutation
Journal Article
Translational Research, ISSN 1931-5244, 04/2019, Volume 206, pp. 5 - 17
The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) studies rare genetic disorders not only to achieve diagnoses, but to understand... 
Phosphates | Medical research | Polysaccharides | Genetic disorders | Ligases | Medicine, Experimental | Diagnosis | Mass spectrometry | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2930 - 2933
Journal Article
PLoS genetics, ISSN 1553-7404, 02/2017, Volume 13, Issue 2, pp. e1006624 - e1006624
[This corrects the article DOI: 10.1371/journal.pgen.1006481.]. 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2016, Volume 53, Issue 5, pp. 318 - 329
Journal Article
Nature Methods, ISSN 1548-7091, 08/2015, Volume 12, Issue 9, pp. 885 - 892
Journal Article