Lista de obras - Isabel Conceição - Dominio Público Uruguay

"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy

artículo científico publicado en 2016

A family with 2 different hereditary diseases leading to early cardiac involvement.

artículo científico publicado en 2013

A peripheral pathway to restless legs syndrome? Clues from familial amyloid polyneuropathy

artículo científico publicado en 2015

Abrupt onset of progressive muscular atrophy

artículo científico publicado en 2004

Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation

artículo científico publicado en 2010

Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial

artículo científico publicado en 2017

Clinical features of TTR-FAP in Portugal.

artículo científico publicado en 2012

Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal.

artículo científico publicado en 2007

Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy

scientific article published on 20 April 2012

Cognitive impairment in liver transplanted patients with transthyretin-related hereditary amyloid polyneuropathy.

artículo científico publicado en 2017

Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type

scientific article published on 01 October 1994

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

artículo científico publicado en 2011

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations

scientific article published on 22 February 2019

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

artículo científico publicado en 2015

Electrochemical skin conductance in hereditary amyloidosis related to transthyretin V30M - a promising tool to assess treatment efficacy?

scientific article published on 01 December 2018

Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy

artículo científico publicado en 2018

Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study

article

Epileptic seizures as a presentation of central nervous system involvement in TTR Val30Met-FAP.

artículo científico publicado en 2016

Evidence for central abnormality in respiratory control in primary lateral sclerosis

artículo científico publicado en 2006

Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients

artículo científico publicado en 2018

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

artículo científico publicado en 2018

Latent Class Analysis to Classify Patients with Transthyretin Amyloidosis by Signs and Symptoms.

artículo científico publicado en 2015

Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

artículo científico publicado en 2016

Motor neuropathies mimicking amyotrophic lateral sclerosis/motor neuron disease

artículo científico publicado en 1996

Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy

artículo científico publicado en 2018

Neurophysiological markers in familial amyloid polyneuropathy patients: early changes

artículo científico publicado en 2008

Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy.

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Novel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system

artículo científico publicado en 2019

Peripheral nerve involvement in classic homocystinuria: an unusual association

artículo científico publicado en 2016

Phase 2 open-label extention (OLE) study of patisiran, an investigational siRNA agent for familial amyloidotic polyneuropathy (FAP).

artículo científico publicado en 2015

Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy

scientific article published on 06 January 2020

Post hoc analysis of nutritional status in patients with transthyretin familial amyloid polyneuropathy: impact of tafamidis.

artículo científico publicado en 2014

Progression of myocardial sympathetic denervation assessed by 123I-MIBG imaging in familial amyloid polyneuropathy and the effect of liver transplantation.

artículo científico publicado en 2017

Recovery after copper-deficiency myeloneuropathy in Wilson’s disease

artículo científico publicado en 2013

Reduced myocardial 123-iodine metaiodobenzylguanidine uptake: a prognostic marker in familial amyloid polyneuropathy.

artículo científico publicado en 2013

Repetitive nerve stimulation in myasthenia gravis--relative sensitivity of different muscles

scientific article published on 01 December 2004

Screening for Pompe disease in a Portuguese high risk population.

artículo científico publicado en 2017

Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene

scientific article published on 09 October 2018

Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy

artículo científico publicado en 2019

Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses

scientific article published on 27 April 2012

Somatosensory evoked potentials in the differential diagnosis between spinal cord compression and amyotrophic lateral sclerosis

scientific article published on 01 July 1995

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease

article

The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy

artículo científico publicado en 2016

Lista de obras de Isabel Conceição

"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy

A family with 2 different hereditary diseases leading to early cardiac involvement.

A peripheral pathway to restless legs syndrome? Clues from familial amyloid polyneuropathy

Abrupt onset of progressive muscular atrophy

Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation

Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial

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.

Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy

Cognitive impairment in liver transplanted patients with transthyretin-related hereditary amyloid polyneuropathy.

Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Electrochemical skin conductance in hereditary amyloidosis related to transthyretin V30M - a promising tool to assess treatment efficacy?

Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy

Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study

Epileptic seizures as a presentation of central nervous system involvement in TTR Val30Met-FAP.

Evidence for central abnormality in respiratory control in primary lateral sclerosis

Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

Latent Class Analysis to Classify Patients with Transthyretin Amyloidosis by Signs and Symptoms.

Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

Motor neuropathies mimicking amyotrophic lateral sclerosis/motor neuron disease

Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy

Neurophysiological markers in familial amyloid polyneuropathy patients: early changes

Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy.

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

Novel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system

Peripheral nerve involvement in classic homocystinuria: an unusual association

Phase 2 open-label extention (OLE) study of patisiran, an investigational siRNA agent for familial amyloidotic polyneuropathy (FAP).

Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy

Post hoc analysis of nutritional status in patients with transthyretin familial amyloid polyneuropathy: impact of tafamidis.

Progression of myocardial sympathetic denervation assessed by 123I-MIBG imaging in familial amyloid polyneuropathy and the effect of liver transplantation.

Recovery after copper-deficiency myeloneuropathy in Wilson’s disease

Reduced myocardial 123-iodine metaiodobenzylguanidine uptake: a prognostic marker in familial amyloid polyneuropathy.

Repetitive nerve stimulation in myasthenia gravis--relative sensitivity of different muscles

Screening for Pompe disease in a Portuguese high risk population.

Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene

Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy

Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses

Somatosensory evoked potentials in the differential diagnosis between spinal cord compression and amyotrophic lateral sclerosis

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease

The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy