相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients
Diana Santos et al.
ANNALS OF NEUROLOGY (2019)
Transthyretin familial amyloid polyneuropathy: an update
Violaine Plante-Bordeneuve
JOURNAL OF NEUROLOGY (2018)
mtDNA copy number associated with age of onset in familial amyloid polyneuropathy
Diana Santos et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)
A change-point model for detecting heterogeneity in ordered survival responses
Olivier Bouaziz et al.
STATISTICAL METHODS IN MEDICAL RESEARCH (2018)
Estimating the global prevalence of transthyretin familial amyloid polyneuropathy
Hartmut H. Schmidt et al.
MUSCLE & NERVE (2018)
Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis
Flora Alarcon et al.
PLOS ONE (2018)
Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE)
Farida Gorram et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2017)
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP
Yesim Parman et al.
CURRENT OPINION IN NEUROLOGY (2016)
Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures
Sunil M. Kurian et al.
THERANOSTICS (2016)
Frequency of the transthyretin Val30Met mutation in the northern Swedish population
Malin Olsson et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2014)
Homozygosity for the V122I Mutation in Transthyretin Is Associated with Earlier Onset of Cardiac Amyloidosis in the African American Population in the Seventh Decade of Life
Honey V. Reddi et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2014)
Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M
Carolina Lemos et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)
Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences
Gōsta Holmgren et al.
CLINICAL GENETICS (2010)
Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy
G. Holmgren et al.
CLINICAL GENETICS (2010)
TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?
Bernard Bonaiti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Parent-of-origin effect in transthyretin related amyloid polyneuropathy
Bernard Bonaiti et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2009)
Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients
M. Olsson et al.
CLINICAL GENETICS (2009)
Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families
M. A. C. Saporta et al.
EUROPEAN JOURNAL OF NEUROLOGY (2009)
PEL: An Unbiased Method for Estimating Age-Dependent Genetic Disease Risk from Pedigree Data Unselected for Family History
F. Alarcon et al.
GENETIC EPIDEMIOLOGY (2009)
Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population
Urban Hellman et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2008)
Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy
Kana Tojo et al.
MUSCLE & NERVE (2008)
Homozygous transthyretin mutation in an African American male
Eapen K. Jacob et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2007)
Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome
G Holmgren et al.
JOURNAL OF MEDICAL GENETICS (2005)
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families
V Plante-Bordeneuve et al.
JOURNAL OF MEDICAL GENETICS (2003)
Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan - Early-vs late-onset form
H Koike et al.
ARCHIVES OF NEUROLOGY (2002)
Anticipation in early- but not late-onset familial amyloid polyneuropathy (TTR Met 30) in Japan
K Misu et al.
NEUROLOGY (2000)
分享论文
