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REVUE DE MEDECINE INTERNE, ISSN 0248-8663, 06/2019, Volume 40, Issue 6, pp. 380 - 388
Hypertrophic cardiomyopathies represent a heterogeneous group of pathophysiological mechanisms and etiologies (genetic or not), which lead to the development... 
DIAGNOSIS | Sarcomeric | HEART-FAILURE | Genetic | TRANSTHYRETIN AMYLOIDOSIS | CARPAL-TUNNEL-SYNDROME | EUROPEAN-SOCIETY | MEDICINE, GENERAL & INTERNAL | HEREDITARY | LONGITUDINAL-STRAIN | Left ventricular hypertrophy | Hypertrophic cardiomyopathy | MAGNETIC-RESONANCE | Amyloidosis | 2-DIMENSIONAL SPECKLE-TRACKING | HIGH PREVALENCE
Journal Article
Noro psikiyatri arsivi, ISSN 1300-0667, 06/2019, Volume 56, Issue 2, pp. 150 - 156
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening disease caused by the accumulation of amyloidogenic transthyretin (TTR)... 
Proteins | Walking | Carpal tunnel syndrome | Immunoglobulins | Mutation | Age
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 06/2019, Volume 130, Issue 6, pp. 903 - 910
To elucidate Aδ-fiber dysfunction at the trunk in patients with hereditary transthyretin (ATTRm) amyloidosis using intra-epidermal electrical stimulation... 
Hereditary transthyretin amyloidosis | Truncal polyneuropathy | Aδ-fiber | Intra-epidermal electrical stimulation | Transthyretin familial amyloid polyneuropathy | Quantitative sensory testing | POLYNEUROPATHY | DETECTION THRESHOLDS | HUMANS | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | PERCEPTION | PAIN | NEUROPATHY | A delta-fiber
Journal Article
Periodontology 2000, ISSN 0906-6713, 06/2019, Volume 80, Issue 1, pp. 12 - 27
Journal Article
Pharmaceuticals (Basel, Switzerland), ISSN 1424-8247, 05/2019, Volume 12, Issue 2, p. 78
Tegsedi (Inotersen) is a chemically modified antisense oligonucleotide that inhibits the hepatic production of transthyretin (TTR). Several single-point... 
gene silencing | Tegsedi (Inotersen) | antisense oligonucleotide | hereditary transthyretin-mediated amyloidosis (hATTR) | hATTR treatment | transthyretin
Journal Article
La Revue de Médecine Interne, ISSN 0248-8663, 05/2019, Volume 40, Issue 5, pp. 323 - 329
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 5, pp. 783 - 791
Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR... 
THAOS | POPULATION | MANAGEMENT | FAMILIAL AMYLOID POLYNEUROPATHY | HEREDITARY | TTR V122I ALLELE | BIOCHEMISTRY & MOLECULAR BIOLOGY | FREQUENCY | MUTATION | GENETICS & HEREDITY | PHENOTYPE | CARDIAC AMYLOIDOSIS | Amyloidogenesis | Data processing | Amyloidosis | Databases | Fibrils | Transthyretin
Journal Article
REVUE DE MEDECINE INTERNE, ISSN 0248-8663, 05/2019, Volume 40, Issue 5, pp. 323 - 329
Lysozyme amyloidosis is a non-neuropathic hereditary amyloidosis identified in 1993. About fifty cases of this rare, probably under-diagnosed disease are... 
VARIANT LYSOZYME | Hereditary amyloidosis | INVOLVEMENT | CAMELID ANTIBODY FRAGMENT | FAMILY | TRANSPLANTATION | MEDICINE, GENERAL & INTERNAL | Histopathological | HEREDITARY | DEPOSITS | MUTATION | LIVER | Genetics | Lysozyme
Journal Article
Neurological Sciences, ISSN 1590-1874, 4/2019, Volume 40, Issue 4, pp. 661 - 669
Journal Article