Cargando…

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

BACKGROUND: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. Ataxia with oculomotor apra...

Descripción completa

Detalles Bibliográficos
Autores principales:	van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M., van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M.W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593195/ https://www.ncbi.nlm.nih.gov/pubmed/26285866 http://dx.doi.org/10.1186/s12881-015-0213-y

Ejemplares similares

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)

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

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

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)

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

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)

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia
por: Bohlega, Saeed A, et al.
Publicado: (2011)

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

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

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)

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

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)

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
por: van den Ouweland, Ans M. W., et al.
Publicado: (2010)

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)

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

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

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)

Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents
por: Ababneh, Nidaa A., et al.
Publicado: (2020)

The role of TDP1 and APTX in mitochondrial DNA repair
por: Meagher, Martin, et al.
Publicado: (2014)

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)

Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease
por: Tumbale, Percy, et al.
Publicado: (2018)

Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients
por: Guimarães, Thiago G., et al.
Publicado: (2022)

Early Onset Dementia in Ataxia Associated with Ocular Apraxia Type 1 (AOA1)
por: Aikaterini, Anastasiou I., et al.
Publicado: (2020)

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
por: Elfferich, Peter, et al.
Publicado: (2011)

Slow mitochondrial repair of 5′-AMP renders mtDNA susceptible to damage in APTX deficient cells
por: Akbari, Mansour, et al.
Publicado: (2015)

APTX acts in DNA double-strand break repair in a manner distinct from XRCC4
por: Imamura, Rikiya, et al.
Publicado: (2023)

Oculomotor interference of bimodal distractors
por: Heeman, Jessica, et al.
Publicado: (2016)

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)

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
por: van de Leemput, Joyce, et al.
Publicado: (2007)

Agnosia, Apraxia, Aphasia
por: German, William J.
Publicado: (1947)

Loss of agency in apraxia
por: Pazzaglia, Mariella, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_iilraoj6v0pajoku11gtqilja4