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Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 3, pp. 457 - 464
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 173 - 183
Journal Article
by Namavar, Yasmin and Barth, Peter G and Kasher, Paul R and van Ruissen, Fred and Brockmann, Knut and Bernert, Günther and Writzl, Karin and Ventura, Karen and Cheng, Edith Y and Ferriero, Donna M and Basel-Vanagaite, Lina and Eggens, Veerle R. C and Krägeloh-Mann, Ingeborg and de Meirleir, Linda and King, Mary and Graham, John M and von Moers, Arpad and Knoers, Nine and Sztriha, Laszlo and Korinthenberg, Rudolf and Dobyns, William B and Baas, Frank and Poll-The, Bwee Tien and van der Aa, Nathalie and Arts, Willem F. M and Ades, Lesley C and Bahi-Buisson, Nadia and Battini, Roberta and Bodamer, Olaf and Boltshauser, Eugen and Boycott, Kym and Brueton, Louise and Brussel, Wim and Chandler, K. E and Cowan, Frances M and Crow, Yanick and Debus, Otfried and Demir, Ercan and Hastanesi, Gazi and Eason, Jacqueline and Ferrie, Colin D and Fisher, Richard B and Foulds, Nicola and Freeman, Jeremy L and Gooskens, Rob and Haeussler, Martin and Hageman, Gerard and Hammersen, Gerhard and Horn, Denise and Isidor, Bertrand and van der Knaap, Marjo S and Kress, Wolfram and Kroisel, Peter M and Kyllerman, Mårten and Lachmeijer, A. M. A and Lunsing, Roelineke J and McGillivray, George and Möllmann, Susanne and Muntoni, Francesco and Nemeth, Anea H and Neufeld-Kaiser, Whitney and van Nieuwenhuizen, Onno and Ouvrier, Robert and Pálmafy, Beatrix and Peeters, E. A. J and Phillips, Joanna J and Price, Susan and Rankin, Julia and Régal, Luc and de Rijk-van Andel, J. F and Roelens, Filip and Rutledge, Joe C and Ryan, Monique M and Seidl, Rainer and Sellerer, Nina C and Shannon, Nora L and Sival, Deborah A and Snoeck, I. N and Straussberg, Rachel and Tijssen, Marina A. J and Verloo, Patrick and de Vries, L. S and Wargowski, David and Williams, Anew N and Windpassinger, Christian and PCH Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Brain, ISSN 0006-8950, 2011, Volume 134, Issue Part 1, pp. 143 - 156
Journal Article
Journal Article
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 01/2015, Volume 35, Issue 3, pp. 936 - 942
Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly.... 
SMA-PCH (spinal muscular atrophy pontocerebellar hypoplasia) | APP | Neuronal migration | VRK1 | PHENOTYPE | DISORDERS | DEPLETION | IDENTIFICATION | NEUROSCIENCES | INTERACT | SIGNALING PATHWAY | neuronal migration | EXPRESSION | KINASES | Cell Cycle - genetics | Spinal Muscular Atrophies of Childhood - genetics | Developmental Disabilities - metabolism | Humans | Neurons - cytology | Developmental Disabilities - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Cerebellum - abnormalities | Spinal Muscular Atrophies of Childhood - metabolism | Cerebral Cortex - cytology | Cell Movement - genetics | Cerebral Cortex - metabolism | Developmental Disabilities - pathology | Cerebellar Diseases - pathology | Nervous System Malformations - metabolism | Amyloid beta-Protein Precursor - metabolism | Neurons - metabolism | Nervous System Malformations - genetics | Intracellular Signaling Peptides and Proteins - genetics | Protein-Serine-Threonine Kinases - metabolism | Cerebellar Diseases - metabolism | Nervous System Malformations - pathology | Cerebellum - metabolism | Protein-Serine-Threonine Kinases - genetics | Spinal Muscular Atrophies of Childhood - pathology | Cerebellum - pathology | Magnetic Resonance Imaging | Amyloid beta-Protein Precursor - genetics | Animals | Cerebellar Diseases - genetics | Cell Line, Tumor | Mice | Index Medicus | Brief Communications
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 11/2014, Volume 73, Issue 11, pp. 1009 - 1025
ABSTRACTPontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function of the brainstem and... 
RARS2 | Pontocerebellar hypoplasia | PCH6 | Wholeexome Sequencing | MIGRATION | CELLS | VARIANTS | Whole-exome sequencing | MECHANISMS | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | MUTATIONS | BRAIN | Olivopontocerebellar Atrophies - pathology | Olivopontocerebellar Atrophies - genetics | Humans | Brain - pathology | Female | Infant | Male | Twins, Dizygotic - genetics | Index Medicus
Journal Article
Nature Communications, ISSN 2041-1723, 07/2014, Volume 5, Issue 1, pp. 4287 - 4287
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 428 - 440
Journal Article