Cargando…

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family

Detalles Bibliográficos
Autores principales:	Maass, Fabian, Jamous, Ala, Biskup, Saskia, Eisenberg, Hanna, D'Hedouville, Zara, Bähr, Mathias, van Riesen, Christoph
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2023
Materias:	Letters: Genotype and Phenotype
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272897/ https://www.ncbi.nlm.nih.gov/pubmed/37332650 http://dx.doi.org/10.1002/mdc3.13717

Ejemplares similares

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
por: Tezenas du Montcel, Sophie, et al.
Publicado: (2014)

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
por: Sharma, Manu, et al.
Publicado: (2012)

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
por: Tsoi, Ho, et al.
Publicado: (2014)

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
por: Lopes, Luis R, et al.
Publicado: (2013)

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
por: McDonald-McGinn, Donna M, et al.
Publicado: (2013)

The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy
por: Liu, Zhong, et al.
Publicado: (2014)

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
por: Hamilton, Alexander J, et al.
Publicado: (2014)

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
por: Ansari, Morad, et al.
Publicado: (2014)

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
por: Burkitt Wright, Emma MM, et al.
Publicado: (2013)

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
por: Alston, Charlotte L, et al.
Publicado: (2012)

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
por: Le Quesne Stabej, Polona, et al.
Publicado: (2011)

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
por: Blanchard, Maxime G, et al.
Publicado: (2015)

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
por: Azzi, Salah, et al.
Publicado: (2015)

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
por: Trump, Natalie, et al.
Publicado: (2016)

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
por: Spiegel, Ronen, et al.
Publicado: (2016)

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
por: Alston, Charlotte L, et al.
Publicado: (2016)

Molecular findings from 537 individuals with inherited retinal disease
por: Ellingford, Jamie M, et al.
Publicado: (2016)

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
por: Ng, Yi Shiau, et al.
Publicado: (2016)

Genetic Severity Score predicts clinical phenotype in NF2
por: Halliday, Dorothy, et al.
Publicado: (2017)

Mutations in IRS4 are associated with central hypothyroidism
por: Heinen, Charlotte A, et al.
Publicado: (2018)

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
por: Sheereen, Atia, et al.
Publicado: (2017)

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1
por: Kapplinger, Jamie D, et al.
Publicado: (2017)

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
por: Li, Wei, et al.
Publicado: (2016)

Clinical course of sly syndrome (mucopolysaccharidosis type VII)
por: Montaño, Adriana M, et al.
Publicado: (2016)

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
por: Brcic, Lucija, et al.
Publicado: (2020)

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
por: Lokulo-Sodipe, Oluwakemi, et al.
Publicado: (2020)

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
por: Germain, Dominique P, et al.
Publicado: (2020)

ATR-16 syndrome: mechanisms linking monosomy to phenotype
por: Babbs, Christian, et al.
Publicado: (2020)

Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
por: Rasmussen, Andreas Hoiberg, et al.
Publicado: (2020)

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF
por: Lv, Mingrong, et al.
Publicado: (2020)

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
por: Byrne, Alicia B, et al.
Publicado: (2020)

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
por: Vakkilainen, Svetlana, et al.
Publicado: (2020)

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
por: Disciglio, Vittoria, et al.
Publicado: (2020)

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
por: Overbeek, Kasper A, et al.
Publicado: (2021)

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities
por: Kaiyrzhanov, Rauan, et al.
Publicado: (2021)

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay
por: Berland, Siren, et al.
Publicado: (2022)

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
por: Nowak, Albina, et al.
Publicado: (2022)

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
por: Elpidorou, Marilena, et al.
Publicado: (2021)

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients
por: Fan, Yanbin, et al.
Publicado: (2021)

Haploinsufficiency of the NF1 gene is associated with protection against diabetes
por: Kallionpää, Roope A, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_feaipgm2scodbvufn53eujepde