Catarina Campos-De

Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: June 15, 2024

Neuropathy progression in hereditary transthyretin amyloidosis (ATTRv) patients after liver transplantation.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: June 24, 2023

Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy.

Journal: Drug, healthcare and patient safety

Published: November 12, 2022

Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries.

Journal: Frontiers in neurology

Published: October 08, 2022

Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

Journal: Frontiers in neurology

Published: August 19, 2021

Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case-control study.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: December 02, 2019

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 10, 2019

Misdiagnosis in late versus early onset hATTR amyloidosis patients: experience from a reference centre.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: July 26, 2019

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.

Journal: Case reports in neurological medicine

Published: May 25, 2019

Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: February 25, 2019

Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis.

Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis.

Neuropathy progression in hereditary transthyretin amyloidosis (ATTRv) patients after liver transplantation.

Neuropathy progression in hereditary transthyretin amyloidosis (ATTRv) patients after liver transplantation.

Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy.

Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy.

Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries.

Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries.

Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case-control study.

Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case-control study.

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

Misdiagnosis in late versus early onset hATTR amyloidosis patients: experience from a reference centre.

Misdiagnosis in late versus early onset hATTR amyloidosis patients: experience from a reference centre.

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.

Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.

Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.

Non-invasive evaluation of sudomotor function in patients with myasthenia gravis.

Non-invasive evaluation of sudomotor function in patients with myasthenia gravis.

Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome.

Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome.