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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2007, Volume 104, Issue 43, pp. 17016 - 17021
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 214 - 219
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2018, Volume 90, Issue 4, pp. 424 - 427
To assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD). We... 
rapidly progressive dementia | neuropathy | prion | amyloid | creutzfeldt-jakob disease | peripheral neuropathology | Proteins | Nervous system | Peripheral neuropathy | Biopsy | Patients | Creutzfeldt-Jakob disease
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 11/2018, Volume 10, Issue 11, pp. e8799 - n/a
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 293 - 300
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 628 - 635
Journal Article
Journal of Neurology, ISSN 0340-5354, 9/2011, Volume 258, Issue 9, pp. 1610 - 1623
Journal Article
Human Mutation, ISSN 1059-7794, 04/2017, Volume 38, Issue 4, pp. 426 - 438
Calcium (Ca 2+ ) is a physiological key factor, and the precise modulation of free cytosolic Ca 2+ levels regulates multiple cellular functions. Store‐operated... 
SOCE | ORAI1 | calcium | STIM1 | Stormorken syndrome | tubular aggregate myopathy | CA2+ ENTRY | PROTEIN | CONSTITUTIVE ACTIVATION | DEFICIENCY | OPERATED CALCIUM-CHANNEL | REGION | ORIGIN | GENETICS & HEREDITY | INTERACTION MOLECULE-1 STIM1 | CRAC CHANNEL | IMMUNODEFICIENCY | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Male | Myopathies, Structural, Congenital - genetics | Erythrocytes, Abnormal - metabolism | Mutation, Missense | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Miosis - genetics | Base Sequence | HEK293 Cells | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | ORAI1 Protein - genetics | Cells, Cultured | Spleen - abnormalities | Dyslexia - genetics | Mice, Knockout | Sequence Homology, Amino Acid | Stromal Interaction Molecule 1 - metabolism | Animals | Ion Channel Gating - genetics | Microscopy, Fluorescence - methods | Migraine Disorders - genetics | Spleen - metabolism | Pedigree | Muscle Fatigue - genetics | Miosis - metabolism | Myopathies, Structural, Congenital - metabolism | Blood Platelet Disorders - metabolism | Muscles | Medicine, Experimental | Medical research | Genetic aspects | Permeability | Homeostasis | Mutation | Index Medicus
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 05/2016, Volume 4, Issue 1, pp. 47 - 47
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
Journal Article