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Scientific Reports, ISSN 2045-2322, 12/2016, Volume 6, Issue 1, pp. 38363 - 38363
Journal Article
Human Genetics, ISSN 0340-6717, 2/2018, Volume 137, Issue 2, pp. 111 - 127
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | COCHLEAR IMPLANTATION | NA,K-ATPASE ALPHA-SUBUNIT | ISOFORMS | ALTERNATING HEMIPLEGIA | CEREBELLAR-ATAXIA | GENETICS & HEREDITY | NA+/K+-ATPASE | ISCEV STANDARD | BETA-SUBUNIT | CHILDHOOD | PUMP | Sodium-Potassium-Exchanging ATPase - genetics | Sodium-Potassium-Exchanging ATPase - chemistry | Humans | Child, Preschool | Foot Deformities, Congenital - genetics | Hearing Loss, Central - epidemiology | Male | Hearing Loss, Sensorineural - epidemiology | Hearing Loss, Central - genetics | Mutation, Missense - genetics | Young Adult | Cerebellar Ataxia - physiopathology | Optic Atrophy - epidemiology | Foot Deformities, Congenital - physiopathology | Adult | Female | Retrospective Studies | Child | Foot Deformities, Congenital - epidemiology | Optic Atrophy - genetics | Cerebellar Ataxia - epidemiology | Optic Atrophy - physiopathology | Hearing Loss, Sensorineural - genetics | Sweden - epidemiology | Molecular Dynamics Simulation | Reflex, Abnormal - genetics | Germany - epidemiology | Phenotype | Cerebellar Ataxia - genetics | Adolescent | Denmark - epidemiology | Hearing Loss, Central - physiopathology | Hearing Loss, Sensorineural - physiopathology | Molecular dynamics | Nervous system diseases | Genetic aspects | Adenosine triphosphatase | Cerebellum | Basal ganglia | Brain stem | Neuropathy | Otoacoustic emissions | Speech perception | Atrophy | Missense mutation | Ataxia | Hemiplegia | Children | Movement disorders | Cerebellar ataxia | Central nervous system diseases | Data processing | Na+/K+-exchanging ATPase | Hearing impairment | Neurological diseases | Hearing | Molecular modelling | Optic atrophy | Sodium | Auditory system | Cochlea | Speech | Mutation | Dystonia | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2013, Volume 92, Issue 1, pp. 67 - 75
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 04/2007, Volume 27, Issue 8, pp. 2997 - 3007
Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley... 
1-MATRIX METALLOPROTEINASE | SIGNALING PATHWAYS | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | LOW-DENSITY-LIPOPROTEIN | NEUTRAL SPHINGOMYELINASE-2 | SMOOTH-MUSCLE-CELLS | BREAST-CARCINOMA CELLS | TNF-ALPHA | SPHINGOSINE KINASE | SPHINGOMYELIN/CERAMIDE PATHWAY | CELL BIOLOGY | Lysophospholipids - metabolism | Fibroblasts - enzymology | Humans | Brefeldin A - pharmacology | Sphingomyelin Phosphodiesterase - metabolism | Sphingosine - metabolism | Myocytes, Smooth Muscle - drug effects | Furin - metabolism | Rabbits | Ceramides - metabolism | Sphingomyelins - metabolism | Matrix Metalloproteinase 2 - metabolism | Myocytes, Smooth Muscle - enzymology | Mitogens - metabolism | Monensin - pharmacology | Sphingolipids - metabolism | Enzyme Activation - drug effects | Matrix Metalloproteinase 14 - metabolism | trans-Golgi Network - drug effects | Tumor Necrosis Factor-alpha - pharmacology | Sphingosine - analogs & derivatives | Animals | Signal Transduction - drug effects | Models, Biological | Fibroblasts - drug effects | Cell Proliferation - drug effects | Fibroblasts - cytology | Mice | Index Medicus | Matrix Metalloproteinase 14 | Cell Proliferation | Signal Transduction | Monensin | Matrix Metalloproteinase 2 | Brefeldin A | Sphingolipids | Tumor Necrosis Factor-alpha | Lysophospholipids | Sphingomyelins | Myocytes, Smooth Muscle | Sphingomyelin Phosphodiesterase | trans-Golgi Network | Sphingosine | Ceramides | Fibroblasts | Furin | Enzyme Activation | Mitogens
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Cellular and Molecular Life Sciences, ISSN 1420-682X, 2/2019, Volume 76, Issue 4, pp. 791 - 807
Journal Article
Human Mutation, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, pp. 1366 - 1371
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 754 - 760
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 1011 - 1019
Journal Article