Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
出版年份 2021 全文链接
标题
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
作者
关键词
-
出版物
JOURNAL OF NEUROLOGY
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-01-08
DOI
10.1007/s00415-020-10348-x
参考文献
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。- KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
- (2020) Tarishi Nemani et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study
- (2020) Abderrahim Oussalah et al. EBioMedicine
- Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan
- (2020) Hsu-Huai Chiu et al. CEREBELLUM
- Spinocerebellar ataxia type 48: last but not least
- (2020) Giovanna De Michele et al. NEUROLOGICAL SCIENCES
- Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
- (2020) Thomas Roux et al. GENETICS IN MEDICINE
- Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia
- (2019) Francesco Nicita et al. CLINICAL GENETICS
- Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
- (2019) Emeline Renard et al. HUMAN GENETICS
- Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
- (2019) Giulia Coarelli et al. NEUROLOGY
- Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families
- (2019) Giovanna De Michele et al. PARKINSONISM & RELATED DISORDERS
- The complex phenotype of spinocerebellar ataxia type 48 (SCA48) in eight unrelated Italian families
- (2019) M Lieto et al. EUROPEAN JOURNAL OF NEUROLOGY
- Changes in protein function underlie the disease spectrum in patients with CHIP mutations
- (2019) Sabrina C. Madrigal et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
- (2019) Arnaud Wiedemann et al. JOURNAL OF HUMAN GENETICS
- Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
- (2019) R. Palvadeau et al. NEUROGENETICS
- Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
- (2018) Mathilde Renaud et al. JAMA Neurology
- Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders
- (2018) Solveig Montaut et al. JAMA Neurology
- Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16
- (2018) José Gazulla et al. NEUROLOGICAL SCIENCES
- Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)
- (2018) David Genis et al. NEUROLOGY
- Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work
- (2017) O. Gebus et al. JOURNAL OF NEUROLOGY
- STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
- (2017) Stefanie Nicole Hayer et al. Orphanet Journal of Rare Diseases
- Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
- (2016) Cecilia Marelli et al. HUMAN MUTATION
- Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
- (2016) Martial Mallaret et al. JOURNAL OF NEUROLOGY
- Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16
- (2016) Toshitaka Kawarai et al. JAMA Neurology
- Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
- (2015) Conceição Bettencourt et al. CEREBELLUM
- Autosomal recessive cerebellar ataxia of adult onset due to STUB1 Mutations
- (2014) C. Depondt et al. NEUROLOGY
- Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
- (2014) Matthis Synofzik et al. Orphanet Journal of Rare Diseases
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- (2014) Ketil Heimdal et al. Orphanet Journal of Rare Diseases
- Autosomal Recessive Cerebellar Ataxia Type 3 Due toANO10Mutations
- (2014) Mathilde Renaud et al. JAMA Neurology
- Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
- (2013) Yuting Shi et al. PLoS One
- The Autosomal Recessive Cerebellar Ataxias
- (2012) Mathieu Anheim et al. NEW ENGLAND JOURNAL OF MEDICINE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
- (2009) M. Anheim et al. NEUROGENETICS
- CHIP Deficiency Decreases Longevity, with Accelerated Aging Phenotypes Accompanied by Altered Protein Quality Control
- (2008) J.-N. Min et al. MOLECULAR AND CELLULAR BIOLOGY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now