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PARK2 presenting as a disabling peripheral axonal neuropathy.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Eleição Presidencial e eleições da Assembleia Nacional em França (10 e 24 de Abril / 12 e 19 de Junho de 2022).
- Published in:
- Polis: Revista de Estudos Jurídico-Políticos, 2022, v. 2, n. 5, p. 267, doi. 10.34628/g0m9-yv56
- By:
- Publication type:
- Article
Eleições Presidenciais na República Democrática de São Tomé e Príncipe (18 de julho e 5 de setembro de 2021).
- Published in:
- Polis: Revista de Estudos Jurídico-Políticos, 2021, v. 2, n. 4, p. 185, doi. 10.34628/yr4x-7z31
- By:
- Publication type:
- Article
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0326-6
- By:
- Publication type:
- Article
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0326-6
- By:
- Publication type:
- Article
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Guideline of transthyretin-related hereditary amyloidosis for clinicians.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-31
- By:
- Publication type:
- Article
Guideline of transthyretin-related hereditary amyloidosis for clinicians.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study.
- Published in:
- Neuroepidemiology, 2018, v. 51, n. 3/4, p. 177, doi. 10.1159/000490553
- By:
- Publication type:
- Article
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
- Published in:
- Cardiology & Therapy, 2024, v. 13, n. 1, p. 117, doi. 10.1007/s40119-023-00344-3
- By:
- Publication type:
- Article
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 8, p. 546, doi. 10.1038/jhg.2010.60
- By:
- Publication type:
- Article
LUTA ANTICORRUPÇÃO COMO EXERCÍCIO DE CIDADANIA ATIVA.
- Published in:
- Revista Internacional Interdisciplinar INTERthesis, 2016, v. 13, n. 3, p. 23, doi. 10.5007/1807-1384.2016v13n3p23
- By:
- Publication type:
- Article
Advances in the treatment of hereditary transthyretin amyloidosis: A review.
- Published in:
- Brain & Behavior, 2019, v. 9, n. 9, p. N.PAG, doi. 10.1002/brb3.1371
- By:
- Publication type:
- Article
Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).
- Published in:
- European Heart Journal, 2022, v. 43, n. 5, p. 391, doi. 10.1093/eurheartj/ehz173
- By:
- Publication type:
- Article
Neuropathy symptom and change: Inotersen treatment of hereditary transthyretin amyloidosis.
- Published in:
- Muscle & Nerve, 2020, v. 62, n. 4, p. 509, doi. 10.1002/mus.27023
- By:
- Publication type:
- Article
Clinical measures in transthyretin familial amyloid polyneuropathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Perception and Experience of Transcultural Care of Stakeholders and Health Service Users with a Migrant Background: A Qualitative Study.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 19, p. 10503, doi. 10.3390/ijerph181910503
- By:
- Publication type:
- Article
Nursing Lecturers' Perception and Experience of Teaching Cultural Competence: A European Qualitative Study.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 3, p. 1357, doi. 10.3390/ijerph18031357
- By:
- Publication type:
- Article
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 616, doi. 10.1007/s00439-001-0632-z
- By:
- Publication type:
- Article
CULTIVO DE MILHO HÍBRIDO COM MACRONUTRIENTES, URINA HUMANA E MANIPUEIRA APLICADOS VIA FUNDAÇÃO E FERTIRRIGAÇÃO.
- Published in:
- Revista IRRIGA - Brazilian Journal of Irrigation & Drainage, 2020, v. 25, n. 2, p. 420, doi. 10.15809/irriga.2020v25n2p420-431
- By:
- Publication type:
- Article
Gait Characterization and Analysis of Hereditary Amyloidosis Associated with Transthyretin Patients: A Case Series.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 3967, doi. 10.3390/jcm11143967
- By:
- Publication type:
- Article
Autonomic dysfunction affects cerebral neurovascular coupling.
- Published in:
- Clinical Autonomic Research, 2011, v. 21, n. 6, p. 395, doi. 10.1007/s10286-011-0129-3
- By:
- Publication type:
- Article
Participação social e luta anticorrupção na gestão pública: ganhos e limitações.
- Published in:
- Emancipação, 2017, v. 17, n. 2, p. 274, doi. 10.5212/Emancipacao.v.17i2.0007
- By:
- Publication type:
- Article
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 330, n. 15, p. 1448, doi. 10.1001/jama.2023.18688
- By:
- Publication type:
- Article
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 225, doi. 10.1038/sj.ejhg.5201095
- By:
- Publication type:
- Article
Nursing students' experience of learning cultural competence.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0259802
- By:
- Publication type:
- Article
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02962-5
- By:
- Publication type:
- Article
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02910-3
- By:
- Publication type:
- Article
Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner.
- Published in:
- BMC Family Practice, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12875-020-01252-4
- By:
- Publication type:
- Article
Association of Severe Hydrocephalus With Congenital Zika Syndrome.
- Published in:
- JAMA Neurology, 2019, v. 72, n. 6, p. 203, doi. 10.1001/jamaneurol.2018.3553
- By:
- Publication type:
- Article
SINTAXE MUSICAL E A CONSTRUÇÃO DE COMPETÊNCIAS MUSICAIS NA EDUCAÇÃO DE INFÂNCIA - UM ESTUDO DE CASO.
- Published in:
- Egitania Sciencia, 2020, n. 26, p. 93, doi. 10.46691/es.v1i26.132
- By:
- Publication type:
- Article
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Hepatic hematomas in pregnancy.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2000, v. 79, n. 10, p. 884, doi. 10.1034/j.1600-0412.2000.079010884.x
- By:
- Publication type:
- Article
Validation of a Single RGB-D Camera for Gait Assessment of Polyneuropathy Patients.
- Published in:
- Sensors (14248220), 2019, v. 19, n. 22, p. 4929, doi. 10.3390/s19224929
- By:
- Publication type:
- Article
Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Psychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy.
- Published in:
- Biomedicine Hub, 2018, v. 3, n. 3, p. N.PAG, doi. 10.1159/000485118
- By:
- Publication type:
- Article
Psychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy.
- Published in:
- Biomedicine Hub, 2017, v. 2, n. 3, p. 1, doi. 10.1159/000485118
- By:
- Publication type:
- Article
C1QA and C1QC modify age‐at‐onset in familial amyloid polyneuropathy patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 4, p. 748, doi. 10.1002/acn3.748
- By:
- Publication type:
- Article
Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 2, p. 98, doi. 10.1002/acn3.380
- By:
- Publication type:
- Article
Portable RGB-D Camera-Based System for Assessing Gait Impairment Progression in ATTRv Amyloidosis.
- Published in:
- Applied Sciences (2076-3417), 2022, v. 12, n. 20, p. N.PAG, doi. 10.3390/app122010203
- By:
- Publication type:
- Article
Qualified Nurses' Perceptions of Cultural Competence and Experiences of Caring for Culturally Diverse Patients: A Qualitative Study in Four European Countries.
- Published in:
- Nursing Reports, 2022, v. 12, n. 2, p. 348, doi. 10.3390/nursrep12020034
- By:
- Publication type:
- Article
The Teaching and Learning Cultural Competence in a Multicultural Environment (CCMEn) Model.
- Published in:
- Nursing Reports, 2020, v. 10, n. 2, p. 154, doi. 10.3390/nursrep10020019
- By:
- Publication type:
- Article
Clinical model for Hereditary Transthyretin Amyloidosis age of onset prediction.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1216214
- By:
- Publication type:
- Article
The impact of information and communication technologies in fish consumption in Portugal: building a support for the coming generations.
- Published in:
- Food Economy / Economia Agro-Alimentare, 2019, v. 21, n. 3, p. 855, doi. 10.3280/ECAG2019-003016
- By:
- Publication type:
- Article
Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 407, p. 1, doi. 10.1126/scitranslmed.aam7621
- By:
- Publication type:
- Article
Family dynamics in transthyretin‐related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 5, p. 401, doi. 10.1111/cge.13416
- By:
- Publication type:
- Article
O Livro Verde sobre o Futuro do Trabalho 2021 e o trabalho nas plataformas digitais: algumas questões.
- Published in:
- Sociologia (08723419), 2022, p. 80, doi. 10.21747/08723419/soctem2022a5
- By:
- Publication type:
- Article
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study.
- Published in:
- 2020
- By:
- Publication type:
- journal article