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Neurology, ISSN 0028-3878, 06/2014, Volume 82, Issue 22, pp. 2007 - 2016
OBJECTIVE:To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). METHODS:We used whole-exome sequencing... 
CELLS | TRANSPORT | VESICLES | DIMER | KINESIN-LIKE PROTEIN | KIF1C | CLINICAL NEUROLOGY | Severity of Illness Index | Spastic Paraplegia, Hereditary - genetics | Humans | Middle Aged | Intracellular Space - genetics | Male | Mutation - genetics | Cell Movement - genetics | Homozygote | Phenotype | Pedigree | Kinesin - genetics | Adult | Female | Heterozygote | Germany | 162 | 163 | 174 | 120
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2013, Volume 21, Issue 11, pp. 1214 - 1218
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2018, Volume 141, Issue 4, pp. 1427 - 1438
Primary antibody deficiencies (PADs) are the most frequent primary immunodeficiencies in human subjects. The genetic causes of PADs are largely unknown. Sec61... 
SEC61A1 | multiple myeloma | translocon | antibody deficiency | calcium homeostasis | plasma cell | endoplasmic reticulum stress | protein translocation | DIAGNOSIS | PROTEIN | RENIN | ER STRESS | IMMUNOLOGY | HYPERURICEMIA | ALLERGY | GENES | ENDOPLASMIC-RETICULUM | DIFFERENTIATION | ANEMIA | TRANSCRIPTION FACTOR | Agammaglobulinemia - genetics | Calcium - metabolism | Humans | Respiratory Tract Infections - genetics | Agammaglobulinemia - metabolism | Plasma Cells - pathology | Cell Differentiation - genetics | Agammaglobulinemia - pathology | T-Lymphocytes - metabolism | HEK293 Cells | Plasma Cells - metabolism | B-Lymphocytes - pathology | T-Lymphocytes - pathology | B-Lymphocytes - metabolism | Respiratory Tract Infections - pathology | Cell Line | Respiratory Tract Infections - metabolism | Unfolded Protein Response - genetics | Mutation - genetics | Protein Transport - genetics | Exome - genetics | SEC Translocation Channels - genetics | Cell Line, Tumor | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Heterozygote | HeLa Cells | Biotechnology | Disease | Calcium | Laboratories | Identification methods | Pathogenesis | Genes | Multiple myeloma | Differentiation (biology) | Homeostasis | Lymphocytes T | Hypogammaglobulinemia | Kinases | Gene sequencing | Proteins | Respiratory tract | Ethics | Genotype & phenotype | Protein folding | Genetic analysis | Activating transcription factor 1 | Respiratory tract diseases | Protein transport | Calcium homeostasis | Translocation | Subpopulations | Phenotypes | Immunoglobulins | Cell survival | Polypeptides | Tumor cell lines | Cell differentiation | Patients | Human subjects | Lymphocytes B | Plasmids | Protein synthesis | Cell lines | Diabetes | Mutation | Endoplasmic reticulum
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, p. 238
  Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia... 
Brain | Genotype & phenotype | Neurons | Zebrafish | Paralysis | Enzyme kinetics | Chromosomes
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, p. 118
  Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three... 
Genetic disorders | Genes | Genomics | Genetic linkage | Learning disabilities | Biosynthesis | Mutation | Neurological disorders
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 118 - 123
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 238 - 244
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1051 - 1064
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 238 - 244
Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP).... 
Journal Article
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