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Content Provider : OpenAIRE Publisher : oxford university press Subject : infant Subject : investigations Subject : learning Subject : medicine Subject : psychology Subject : salud mental Filter by : Subject

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Authors : Daniëlle G. M. Bosch; Nicole Corsten-Janssen; Colin A Ellis

Subjects: Myoclonus; Ataxia; Retinitis

Source: Brain, 145, 1, pp. 208-223BrainBrain, 145(1), 208-223. Oxford University PressBrain, vol. 145, no. 1, pp. 208-223Brain, 145, 208-223

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RBM6 splicing factor promotes homologous recombination repair of double-strand breaks and modulates sensitivity to chemotherapeutic drugs

Authors : Laila A. Bishara; Samah W. Awwad; Feras E. Machour

Subjects: AcademicSubjects/SCI00010; RNA Stability; Antineoplastic Agents

Source: Nucleic Acids ResearchNucleic Acid Research

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Adult Movement Defects Associated with a CORL Mutation in Drosophila Display Behavioral Plasticity

Authors : Nasia Chatzianastasi; Stuart J. Newfeld; Michael B. O'Connor

Subjects: Ataxia; Movement disorders; media_common.quotation_subject

Source: G3: Genes, Genomes, Genetics, Vol 10, Iss 5, Pp 1697-1706 (2020)

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The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?

Authors : Richard A. Anderson; Roseanne Rosario

Subjects: 0301 basic medicine; Untranslated region; Embryology

Source: Molecular Human ReproductionRosario, R & Anderson, R A 2020, ' The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based? ',

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A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13

Authors : Samantha K. Dziurdzik; Michael Davey; Björn D. M. Bean

Subjects: Gene isoform; Ataxia; Saccharomyces cerevisiae Proteins

Source: Human Molecular Genetics

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USP14 is a deubiquitinase for Ku70 and critical determinant of non-homologous end joining repair in autophagy and PTEN-deficient cells

Authors : Isha Kapoor; Pal Debjani; Belinda Willard

Subjects: Ku80; DNA End-Joining Repair; DNA Repair

Source: Nucleic Acids Research

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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Authors : Saskia B. Wortmann; Simon C. Lovell; Antoine H. C. van Kampen ...

Subjects: 0301 basic medicine; Male; Developmental Disabilities

Source: BrainBrain 142, 3382-3397 (2019)Mcdermott, J, Metcalfe, K, Banka, S, Cuvertino, S, Clayton, P, Yarwood, R, Lowe, M & Lovell, S 2019, ' Mutations in PCYT2 disrupt etherlipid biosynthesis

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Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox–Gastaut syndrome

Authors : Quratulain Zulfiqar Ali; Farah Qaiser; Christopher E. Pearson

Subjects: Biology; Genome; DNA sequencing

Source: Brain Communications

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Brainstem and striatal volume changes are detectable in under 1 year and predict motor decline in spinocerebellar ataxia type 1

Authors : Timothy R. Koscik; Dinesh K. Deelchand; James M. Joers

Subjects: Pathology; medicine.medical_specialty; Spinocerebellar Ataxia Type 1

Source: Brain Communications

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Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients

Authors : Giovanni Coppola; Fuying Gao; Susan Perlman

Subjects: 0301 basic medicine; Adult; Male

Source: Human Molecular GeneticsHuman molecular genetics, vol 27, iss 17

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