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Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 3/2019, Volume 257, Issue 3, pp. 629 - 638
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2018, Volume 39, Issue 2, pp. 263 - 267
FLVCR1 (feline leukemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in... 
FLVCR1 | retinitis pigmentosa | PCARP | feline leukemia virus subgroup c receptor 1 | posterior column ataxia with retinitis pigmentosa | RNA | IRON | DEGENERATION | PROTECTS | DISEASE | GENETICS & HEREDITY | OPHTHALMOLOGY | GENE-THERAPY | MICE | MUTATIONS | Index Medicus | feline leukaemia virus subgroup c receptor 1
Journal Article
International Journal of Neuroscience, ISSN 0020-7454, 1/2015, Volume 125, Issue 1, pp. 43 - 49
Journal Article
臨床神経学, ISSN 0009-918X, 2011, Volume 51, Issue 11, pp. 970 - 972
With the throughput of next-generation sequencers, even whole genome analysis is a reality. Traditionally, it was important to collect as many samples as... 
連鎖解析 | 網膜色素変性症を伴う後索失調症 | 次世代シーケンサー | ターゲットキャプチャー解析 | 全ゲノム配列解析
Journal Article
Cell Death and Differentiation, ISSN 1350-9047, 03/2018, Volume 25, Issue 3, pp. 573 - 588
Heme is required for cell respiration and survival. Nevertheless, its intracellular levels need to be finely regulated to avoid heme excess, which may catalyze... 
POSTERIOR COLUMN ATAXIA | INHIBITION | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEASOME | DEGRADATION | ENDOPLASMIC-RETICULUM | MECHANISMS | DEATH | DYSFUNCTION | STRESS | CA2+ OVERLOAD | CELL BIOLOGY | Cell survival | Intracellular levels | Homeostasis | Lethality | Embryos | Endothelial cells | Angiogenesis | Molecular modelling | Cell death | Rodents | Heme | Intracellular | Endoplasmic reticulum | Apoptosis
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, pp. e28936 - e28936
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite... 
POSTERIOR COLUMN ATAXIA | INTERACTING PROTEIN | TRANSCRIPTIONAL COACTIVATORS | BIOLOGY | C-MYC | STATUS-EPILEPTICUS | DEATH | TRANSFER-RNA | MUTATIONS | RETINITIS-PIGMENTOSA | ADAPTER MOLECULE | Seizures - genetics | Microtubule-Associated Proteins - genetics | CRADD Signaling Adaptor Protein | Humans | Child, Preschool | Infant | Amino Acyl-tRNA Synthetases | Receptors, Virus - genetics | Intellectual Disability - genetics | Amish - genetics | Ethnic Groups - genetics | Usher Syndromes - genetics | Membrane Transport Proteins - genetics | Chromosome Mapping - methods | Epilepsy - genetics | Parkinsonian Disorders - genetics | Nuclear Proteins - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Genetic Predisposition to Disease - genetics | Genetic Association Studies - methods | Dopamine Plasma Membrane Transport Proteins - genetics | Exome - genetics | Polymorphism, Single Nucleotide | Sequence Analysis, DNA - methods | Genetic aspects | Nucleotide sequencing | Single nucleotide polymorphisms | DNA sequencing | Neurosciences | Disease | Genes | Business improvement districts | Mapping | Biology | Single-nucleotide polymorphism | Gene polymorphism | Population genetics | Data bases | Gene sequencing | Coupling (molecular) | Enterprise zones | Lists | Children | Pathogens | Nuclear electric power generation | Pathogenicity | Medicine | Hospitals | DNA microarrays | Genotyping | Mutation | Gene mapping | Polymorphism | Index Medicus
Journal Article
Current Alzheimer Research, ISSN 1567-2050, 02/2016, Volume 13, Issue 2, pp. 174 - 184
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2016, Volume 12, Issue 12, pp. e1006461 - e1006461
Journal Article
Neurologic Clinics, ISSN 0733-8619, 2015, Volume 33, Issue 1, pp. 225 - 248
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2006, Volume 1, Issue 1, pp. 47 - 47
Journal Article