about
"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathyNeurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy.Post hoc analysis of nutritional status in patients with transthyretin familial amyloid polyneuropathy: impact of tafamidis.Latent Class Analysis to Classify Patients with Transthyretin Amyloidosis by Signs and Symptoms.Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose studyManagement of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathyDominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.A peripheral pathway to restless legs syndrome? Clues from familial amyloid polyneuropathy.Abrupt onset of progressive muscular atrophy.Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial.Phase 2 open-label extention (OLE) study of patisiran, an investigational siRNA agent for familial amyloidotic polyneuropathy (FAP).Progression of myocardial sympathetic denervation assessed by 123I-MIBG imaging in familial amyloid polyneuropathy and the effect of liver transplantation.Epileptic seizures as a presentation of central nervous system involvement in TTR Val30Met-FAP.Peripheral nerve involvement in classic homocystinuria: an unusual association.Evidence for central abnormality in respiratory control in primary lateral sclerosis.The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy.Cognitive impairment in liver transplanted patients with transthyretin-related hereditary amyloid polyneuropathy.Reduced myocardial 123-iodine metaiodobenzylguanidine uptake: a prognostic marker in familial amyloid polyneuropathy.A family with 2 different hereditary diseases leading to early cardiac involvement.Clinical features of TTR-FAP in Portugal.Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal.Screening for Pompe disease in a Portuguese high risk population.Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide StudySusceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene diseaseSolid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal AmyloidosesEnzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancyNatural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathyRecovery after copper-deficiency myeloneuropathy in Wilson’s diseaseMotor neuropathies mimicking amyotrophic lateral sclerosis/motor neuron diseaseSomatosensory evoked potentials in the differential diagnosis between spinal cord compression and amyotrophic lateral sclerosisCorrelation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese typeNeurophysiological markers in familial amyloid polyneuropathy patients: early changesRepetitive nerve stimulation in myasthenia gravis--relative sensitivity of different musclesCoexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsyAcquired amyloid neuropathy in a Portuguese patient after domino liver transplantationHereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patientsInotersen Treatment for Patients with Hereditary Transthyretin AmyloidosisNon-invasive evaluation of sudomotor function in patients with myasthenia gravisElectrochemical skin conductance in hereditary amyloidosis related to transthyretin V30M - a promising tool to assess treatment efficacy?Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations
P50
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P50
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researcher ORCID ID = 0000-0003-0934-9631
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0000-0003-0934-9631