Last Posted: Jan 15, 2020
- Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
Adams David et al. Journal of neurology 2020 Jan
- Recurrent mutations of MAPK pathway genes in multiple myeloma but not in amyloid light-chain amyloidosis.
Kim Seok Jin, et al. Oncotarget 2016 10 (42) 68350-68359
- Mutational landscape reflects the biological continuum of plasma cell dyscrasias.
Rossi A, et al. Blood cancer journal 2017 2 (2) e537
- Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: Comparison to myeloma.
da Silva Filho M I, et al. Leukemia 2016 12
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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