Cargando…

Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease

From a neuropathological perspective, elderly patients who die with a clinical diagnosis of sporadic Alzheimer’s disease (AD) are a heterogeneous group with several different pathologies contributing to the AD phenotype. This poses a challenge when searching for low effect size susceptibility genes...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guerreiro, Rita, Bras, Jose, Toombs, Jamie, Heslegrave, Amanda, Hardy, John, Zetterberg, Henrik
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2014
Materias:	Neurogenetics and Psychiatric Genetics (M Hiltunen & DR Marenda, Section Editors)
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317514/ https://www.ncbi.nlm.nih.gov/pubmed/25664224 http://dx.doi.org/10.1007/s40142-014-0062-6

Ejemplares similares

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3
por: Garcia‐Moreno, Hector, et al.
Publicado: (2022)

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
por: Wang, Kun, et al.
Publicado: (2018)

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
por: Serpieri, Valentina, et al.
Publicado: (2023)

Variants in BSN gene associated with epilepsy with favourable outcome
por: Ye, Tingting, et al.
Publicado: (2023)

Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
por: Bobbili, Dheeraj Reddy, et al.
Publicado: (2020)

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients
por: Kuhn, Marius, et al.
Publicado: (2016)

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
por: Ogonowski, Natalia, et al.
Publicado: (2023)

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
por: Maroofian, Reza, et al.
Publicado: (2023)

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
por: Cao, Xuanye, et al.
Publicado: (2021)

Identification of a spontaneously arising variant affecting thermotaxis behavior in a recombinant inbred Caenorhabditis elegans line
por: Yeon, Jihye, et al.
Publicado: (2023)

Mitochondria and Alzheimer’s Disease: the Role of Mitochondrial Genetic Variation
por: Ridge, Perry G., et al.
Publicado: (2018)

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
por: Yigit, Gökhan, et al.
Publicado: (2022)

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
por: Vogt, Guido, et al.
Publicado: (2022)

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
por: Maroofian, Reza, et al.
Publicado: (2021)

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
por: Mirchi, Amytice, et al.
Publicado: (2023)

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
por: Tulli, Susanna, et al.
Publicado: (2019)

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis
por: Fratta, Pietro, et al.
Publicado: (2014)

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
por: Tucci, Arianna, et al.
Publicado: (2014)

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications
por: Saracino, Dario, et al.
Publicado: (2021)

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia
por: Klein, Christopher J, et al.
Publicado: (2013)

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
por: Liu, Yo-Tsen, et al.
Publicado: (2014)

Genetic neurological channelopathies: molecular genetics and clinical phenotypes
por: Spillane, J, et al.
Publicado: (2016)

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series
por: Lynch, David S, et al.
Publicado: (2016)

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
por: Fridman, V, et al.
Publicado: (2015)

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
por: Legati, Andrea, et al.
Publicado: (2017)

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation
por: Pozzi, Laura, et al.
Publicado: (2017)

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
por: Addis, Laura, et al.
Publicado: (2018)

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
por: Juneja, Manisha, et al.
Publicado: (2019)

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial
por: Ohsawa, Yutaka, et al.
Publicado: (2019)

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
por: Lynch, David S, et al.
Publicado: (2019)

Integrative network and brain expression analysis reveals mechanistic modules in ataxia
por: Eidhof, Ilse, et al.
Publicado: (2019)

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan
por: Yoshimura, Akiko, et al.
Publicado: (2019)

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
por: Chelban, Viorica, et al.
Publicado: (2017)

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
por: Pérez-Palma, Eduardo, et al.
Publicado: (2017)

Intermediate C9orf72 alleles in neurological disorders: does size really matter?
por: Ng, Adeline S L, et al.
Publicado: (2017)

Myelin oligodendrocyte glycoprotein-associated disorders are associated with HLA subtypes in a Chinese paediatric-onset cohort
por: Sun, Xiaobo, et al.
Publicado: (2020)

Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression
por: Deng, Xiao, et al.
Publicado: (2019)

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
por: Ververis, Antonis, et al.
Publicado: (2020)

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
por: Verdura, Edgard, et al.
Publicado: (2020)

Genetic T-type calcium channelopathies
por: Weiss, Norbert, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_6hnkuisvdgg3bf2rsvsn0eeie1