Cargando…

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

BACKGROUND: Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). Patients are mainly characterized by cerebellar ataxia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bohlega, Saeed A, Shinwari, Jameela M, Al Sharif, Latifa J, Khalil, Dania S, Alkhairallah, Thamer S, Al Tassan, Nada A
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048493/ https://www.ncbi.nlm.nih.gov/pubmed/21324166 http://dx.doi.org/10.1186/1471-2350-12-27

Ejemplares similares

Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
por: Lee, Minwoo, et al.
Publicado: (2016)

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome
por: Khan, Arif O., et al.
Publicado: (2011)

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families
por: Khan, Arif O., et al.
Publicado: (2011)

Erratum to: Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
por: Lee, Minwoo, et al.
Publicado: (2017)

Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)
por: Khan, Arif O., et al.
Publicado: (2011)

Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2
por: Klivényi, Peter, et al.
Publicado: (2012)

Expanding the ataxia with oculomotor apraxia type 4 phenotype
por: Paucar, Martin, et al.
Publicado: (2016)

A New Phenotype of Ataxia With Oculomotor Apraxia Type 4
por: Freitas, Eduardo, et al.
Publicado: (2021)

Parkinson’s Disease in Saudi Patients: A Genetic Study
por: Al-Mubarak, Bashayer R., et al.
Publicado: (2015)

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2
por: Bernard, Veronica, et al.
Publicado: (2009)

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
por: Bras, Jose, et al.
Publicado: (2015)

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1
por: Manzoor, Humera, et al.
Publicado: (2017)

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia
por: Inlora, Jingga, et al.
Publicado: (2017)

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
por: van Minkelen, Rick, et al.
Publicado: (2015)

Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2
por: Fogel, Brent L., et al.
Publicado: (2009)

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
por: Tariq, Huma, et al.
Publicado: (2018)

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation
por: KARIMZADEH, Parvaneh, et al.
Publicado: (2017)

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome
por: Pedroso, José Luiz, et al.
Publicado: (2020)

Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2
por: Kanagaraj, Radhakrishnan, et al.
Publicado: (2022)

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease
por: Yemni, Eman Al, et al.
Publicado: (2019)

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage
por: Suraweera, Amila, et al.
Publicado: (2007)

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype
por: Santos, Mariana, et al.
Publicado: (2020)

Joubert Syndrome Presenting With Oculomotor Apraxia and Motor Developmental Delay: A Case Report From a Neuro-Ophthalmology Clinic in Saudi Arabia
por: Mandura, Rahaf A, et al.
Publicado: (2022)

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review
por: Chen, Shuaishuai, et al.
Publicado: (2022)

Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
por: Gill, Harjinder, et al.
Publicado: (2011)

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature
por: Bajek, Agnieszka, et al.
Publicado: (2023)

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein
por: Mariani, L. L., et al.
Publicado: (2017)

Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease
por: Innes, Emily Amy, et al.
Publicado: (2023)

Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder
por: Shinwari, Jameela M.A., et al.
Publicado: (2017)

NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder
por: Helmchen, Christoph, et al.
Publicado: (2022)

Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans
por: Islam, Azharul, et al.
Publicado: (2023)

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
por: Bohlega, Saeed A., et al.
Publicado: (2016)

CADASIL in Arabs: clinical and genetic findings
por: Bohlega, Saeed, et al.
Publicado: (2007)

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1
por: Wu, Xuan, et al.
Publicado: (2022)

Sarcoidosis in the eastern region of Saudi Arabia
por: Al-Khouzaie, Thamer H., et al.
Publicado: (2011)

Clinical and genetic features of anoctaminopathy in Saudi Arabia
por: Bohlega, Saeed, et al.
Publicado: (2015)

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
por: Campopiano, Rosa, et al.
Publicado: (2020)

Isolated Neurological Manifestation in Silent Celiac Disease
por: Tarabzouni, Salma, et al.
Publicado: (2017)

Colorectal cancer-related resource utilization and healthcare costs in Saudi Arabia
por: Balkhi, Bander, et al.
Publicado: (2023)

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
por: Alharbi, Norah, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ubianura9ffd3hpsqa1fvid7o5