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Journal of Clinical Neuroscience, ISSN 0967-5868, 09/2019, Volume 67, pp. 19 - 23
Hereditary Spastic paraplegias (HSPs) are heterogeneous group of degenerative disorders characterized by progressive weakness and spasticity of the lower... 
Ataxia | SPG56 | Spastic paraplegia | Peripheral neuropathy | SPG11
Journal Article
Stem Cell Research, ISSN 1873-5061, 08/2019, Volume 39, pp. 101518 - 101518
Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene ( ). We... 
Index Medicus
Journal Article
Stem Cell Research, ISSN 1873-5061, 08/2019, Volume 39, pp. 101523 - 101523
Dravet syndrome (DS) is a childhood epilepsy syndrome caused by heterozygous mutations in the gene encoding voltage-gated sodium channel Na 1.1. We generated... 
Index Medicus
Journal Article
Experimental Cell Research, ISSN 0014-4827, 07/2019, pp. 111469 - 111469
We generated human iPS derived neural stem cells and differentiated cells from healthy control individuals and an individual with autism spectrum disorder... 
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 899 - 903
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental... 
microcephaly | brachydactyly | RTTN | exon skipping | Rotatin | gene variant | RTTN gene variant | MALFORMATIONS | GENETICS & HEREDITY | Dwarfism | Microencephaly | Leukocyte migration | Magnetic resonance imaging | Neurodevelopmental disorders | Microcephaly | Cell migration | Brachydactyly | Index Medicus
Journal Article
Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38, pp. 101474 - 101474
Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene . We generated human iPSC lines from primary... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY
Journal Article
Spine Deformity, ISSN 2212-134X, 03/2019, Volume 7, Issue 2, pp. 312 - 318
Reproducibility study of a classification system. To provide the inter- and intrarater reproducibility of the Roussouly Classification System in a... 
Sagittal alignment | Kyphosis | Spine | Scoliosis | Roussouly | Classification | Adult | Reproducibility of results | Observer variation | Evaluation | Development and progression | Care and treatment | Health status indicators | Spinal diseases | Index Medicus
Journal Article
Spine Deformity, ISSN 2212-134X, 2019
Study Design: Reproducibility study. Objectives: To report the agreement and reliability for commonly used sagittal plane measurements. Summary of Background... 
Agreement | Adult | Reliability | Reproducibility | Spine
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 17278 - 12
Active microbes likely have larger impact on gut health status compared to inactive or dormant microbes. We investigate the composition of active and total... 
GUT MICROBIOTA | COMMUNITIES | RNA | MULTIDISCIPLINARY SCIENCES | rRNA 16S | Transcription | Mucosa | Inflammation | Patients | Inflammatory bowel disease | Microbiota | Etiology | Colon | Deoxyribonucleic acid--DNA | DNA sequencing | Ulcerative colitis | Community composition
Journal Article
AIDS Research and Human Retroviruses, ISSN 0889-2229, 10/2018, Volume 34, Issue S1, pp. 1 - 407
Journal Article
by Wang, Sheng and Mandell, Jeffrey D and Kumar, Yogesh and Sun, Nawei and Morris, Montana T and Arbelaez, Juan and Nasello, Cara and Dong, Shan and Duhn, Clif and Zhao, Xin and Yang, Zhiyu and Padmanabhuni, Shanmukha S and Yu, Dongmei and King, Robert A and Dietrich, Andrea and Khalifa, Najah and Dahl, Niklas and Huang, Alden Y and Neale, Benjamin M and Coppola, Giovanni and Mathews, Carol A and Scharf, Jeremiah M and Abdulkadir, Mohamed and Bodmer, Benjamin and Bromberg, Yana and Brown, Lawrence W and Cheon, Keun-Ah and Coffey, Barbara J and Deng, Li and Elzerman, Lonneke and Fernandez, Thomas V and Fremer, Carolin and Garcia-Delgar, Blanca and Gilbert, Donald L and Grice, Dorothy E and Hagstrøm, Julie and Hedderly, Tammy and Heiman, Gary A and Heyman, Isobel and Hoekstra, Pieter J and Hong, Hyun Ju and Huyser, Chaim and Kim, Eun-Joo and Kim, Young-Shin and Kim, Young Key and Koh, Yun-Joo and Kook, Sodahm and Kuperman, Samuel and Leventhal, Bennett L and Ludolph, Andrea G and Madruga-Garrido, Marcos and Maras, Athanasios and Mir, Pablo and Morer, Astrid and Müller-Vahl, Kirsten and Münchau, Alexander and Murphy, Tara L and Plessen, Kerstin J and Poisner, Hannah and Roessner, Veit and Sanders, Stephan J and Shin, Eun-Young and Song, Jungeun and Song, Dong-Ho and State, Matthew W and Thackray, Joshua K and Tischfield, Jay A and Tübing, Jennifer and Visscher, Frank and Wanderer, Sina and Willsey, A. Jeremy and Willsey, A Jeremy and Woods, Martin and Xing, Jinchuan and Zhang, Yeting and Zinner, Samuel H and Androutsos, Christos and Barta, Csaba and Farkas, Luca and Fichna, Jakub and Georgitsi, Marianthi and Janik, Piotr and Karagiannidis, Iordanis and Koumoula, Anastasia and Nagy, Peter and Paschou, Peristera and Puchala, Joanna and Rizzo, Renata and Szejko, Natalia and Szymanska, Urszula and Tarnok, Zsanett and Tsironi, Vaia and Wolanczyk, Tomasz and Zekanowski, Cezary and Barr, Cathy L and Batterson, James R and Berlin, Cheston and Bruun, Ruth D and Budman, Cathy L and Cath, Danielle C and ... and Tourette Int Collaborative and Tourette Syndrome Genetics and TAAICG and Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE) and Tourette International Collaborative Genetics Study (TIC Genetics) and Tourette Association of America International Consortium for Genetics (TAAICG) and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm and Barn- och ungdomspsykiatri and Medicinsk genetik och genomik and Uppsala universitet and Centrum för klinisk forskning, Gävleborg and Institutionen för neurovetenskap
Cell Reports, ISSN 2211-1247, 09/2018, Volume 24, Issue 13, pp. 3441 - 3454.e12
Journal Article
Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1262 - 1272
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 07/2018, Volume 23, Issue 7, pp. 1674 - 1684