Lista de obras - Anna Přistoupilová - Dominio Público Uruguay

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

artículo científico publicado en 2016

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

artículo científico publicado en 2013

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

artículo científico publicado en 2016

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

artículo científico publicado en 2013

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

artículo científico publicado en 2013

Mutations in ANTXR1 cause GAPO syndrome.

artículo científico publicado en 2013

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2011

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

artículo científico publicado en 2015

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

artículo científico publicado en 2018

New genes emerging for colorectal cancer predisposition

artículo científico publicado en 2014

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

artículo científico publicado en 2018

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

artículo científico publicado en 2016

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing

scientific article published on 26 April 2020

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

artículo científico publicado en 2018

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

artículo científico publicado en 2016

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

artículo científico publicado en 2014

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

artículo científico publicado en 2014

Lista de obras de Anna Přistoupilová

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Mutations in ANTXR1 cause GAPO syndrome.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

New genes emerging for colorectal cancer predisposition

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer