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Toward understanding machado–Joseph disease
M do Carmo Costa, HL Paulson - Progress in neurobiology, 2012 - Elsevier
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …
the most common inherited spinocerebellar ataxia and one of many polyglutamine …
Machado-Joseph Disease: from first descriptions to new perspectives
C Bettencourt, M Lima - Orphanet journal of rare diseases, 2011 - Springer
Abstract Machado-Joseph Disease (MJD), also known as spinocerebellar ataxia type 3
(SCA3), represents the most common form of SCA worldwide. MJD is an autosomal …
(SCA3), represents the most common form of SCA worldwide. MJD is an autosomal …
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study
Importance Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary
spastic paraplegia (HSP) are scarce. Objective To present the prevalence and distribution of …
spastic paraplegia (HSP) are scarce. Objective To present the prevalence and distribution of …
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis
L Obici, JB Kuks, J Buades, D Adams… - Current opinion in …, 2016 - journals.lww.com
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alertsGet alerts Secondary Logo Journal Logo Advanced Search Toggle navigation Subscribe …
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[HTML][HTML] Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease
CM Cerecedo-Zapata, YS Tapia-Guerrero… - International Journal of …, 2024 - mdpi.com
Spinocerebellar ataxia type 7 (SCA7) is a rare genetic disease characterized by progressive
cerebellar syndrome and macular degeneration. In a previous study, we clinically and …
cerebellar syndrome and macular degeneration. In a previous study, we clinically and …
What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective
Genetic counselling must be offered in the context of presymptomatic testing (PST) for
severe late-onset diseases; however, effective genetic counselling is not well defined, and …
severe late-onset diseases; however, effective genetic counselling is not well defined, and …
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
JD Pereira, C Costa, A Santos, MS Lemos… - Journal of Community …, 2024 - Springer
This study is the first to explore the psychosocial experience of young Portuguese adults at
genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR …
genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR …
Ethical issues in neurogenetics
WR Uhlmann, JS Roberts - Handbook of clinical neurology, 2018 - Elsevier
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have
implications for the patient's relatives and can raise ethical issues. Predictive genetic testing …
implications for the patient's relatives and can raise ethical issues. Predictive genetic testing …
Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: experience with the disease, kinship and gender of the …
To identify possible factors affecting the psychological impact of pre-symptomatic testing for
spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP …
spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP …
Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal
Introdução: Em 1995 foi iniciado em Portugal um protocolo nacional para o aconselhamento
genético e teste pré-sintomático de doenças neurológicas de início tardio. Inicialmente, foi …
genético e teste pré-sintomático de doenças neurológicas de início tardio. Inicialmente, foi …