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المساهمون: Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University of British Columbia (UBC), Faculty of Medicine Hacettepe University, Hacettepe University = Hacettepe Üniversitesi, Karadeniz Technical University (KTU), Kennedy Krieger Institute Baltimore, ASST Papa Giovanni XXIII Bergamo, Italy, Università degli Studi di Padova = University of Padua (Unipd), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

المصدر: ISSN: 0340-5354.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31612321; hal-03368381; https://hal.umontpellier.fr/hal-03368381Test; https://hal.umontpellier.fr/hal-03368381/documentTest; https://hal.umontpellier.fr/hal-03368381/file/2020%20GUISSART%20et%20al.,%20ATP8A2.pdfTest; PUBMED: 31612321

الإتاحة: https://doi.org/10.1007/s00415-019-09579-4Test
https://hal.umontpellier.fr/hal-03368381Test
https://hal.umontpellier.fr/hal-03368381/documentTest
https://hal.umontpellier.fr/hal-03368381/file/2020%20GUISSART%20et%20al.,%20ATP8A2.pdfTest

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5

دورية أكاديمية

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: ATP8A2, Phospholipid transfer protein, Optic atrophy, Chorea, Choreoathetosis, Dystonia, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0825-3Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6aTest

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النص الكامل

6

دورية أكاديمية

A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome

المؤلفون: Amene Saghazadeh, Seyed Hassan Tonekaboni, Hossein Najmabadi, Nima Rezaei

المصدر: Acta Medica Iranica, Vol 56, Iss 10 (2019)

مصطلحات موضوعية: Dysequilibrium syndrome type 4, Case report, Whole exome sequencing, ATP8A2 gene, Iran, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://acta.tums.ac.ir/index.php/acta/article/view/7153Test; https://doaj.org/toc/0044-6025Test; https://doaj.org/toc/1735-9694Test

الوصول الحر: https://doaj.org/article/c712f60a7b8a48d89264f242a55a28b6Test

View record in DOAJ

النص الكامل

7

دورية أكاديمية

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

المساهمون: Child and Family Research Institute, University of British Columbia. Centre for Macular Research

مصطلحات موضوعية: ATP8A2, Phospholipid transfer protein, Optic atrophy, Chorea, Choreoathetosis, Dystonia, Developmental disabilities, Whole exome sequencing

العلاقة: Orphanet Journal of Rare Diseases. 2018 May 31;13(1):86; http://hdl.handle.net/2429/66525Test

الإتاحة: https://doi.org/10.1186/s13023-018-0825-3Test
http://hdl.handle.net/2429/66525Test

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8

ATP8A2-related disorders as recessive cerebellar ataxia

المؤلفون: Ibrahim Oncel, Haluk Topaloglu, Kristin Baraῆano, Robert S. Molday, Mireille Claustres, Lise Larrieu, Patrick Calvas, Maria Iascone, Romano Tenconi, Anna Chassevent, Michel Koenig, Mehdi Benkirane, Nesibe Eroglu-Ertugrul, Elif Acar Arslan, Alexander N Harrison, Claire Guissart

المساهمون: Salvy-Córdoba, Nathalie, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University of British Columbia (UBC), Faculty of Medicine [Hacettepe University], Hacettepe University = Hacettepe Üniversitesi, Karadeniz Technical University (KTU), Kennedy Krieger Institute [Baltimore], ASST Papa Giovanni XXIII [Bergamo, Italy], Università degli Studi di Padova = University of Padua (Unipd), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universita degli Studi di Padova, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]

المصدر: Journal of Neurology
Journal of Neurology, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal of Neurology, Springer Verlag, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩

مصطلحات موضوعية: Male, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, P4-ATPase, Psychomotor delay, Consanguinity, 0302 clinical medicine, MESH: Child, Missense mutation, 030212 general & internal medicine, Phospholipid Transfer Proteins, Child, Adenosine Triphosphatases, MESH: Phospholipid Transfer Proteins, MESH: Infant, Hypotonia, Pedigree, MESH: Cerebellar Ataxia, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Cerebellar atrophy, medicine.symptom, Adult, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, MESH: Pedigree, Encephalopathy, Mutation, Missense, Genes, Recessive, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phenotype, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Atrophy, Internal medicine, MESH: Adenosine Triphosphatases, medicine, Humans, Point Mutation, MESH: Genes, Recessive, MESH: Point Mutation, MESH: Consanguinity, MESH: Mutation, Missense, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Humans, Cerebellar ataxia, business.industry, MESH: Child, Preschool, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Infant, MESH: Adult, Chorea, medicine.disease, MESH: Male, ATP8A2, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, CAMRQ, Neurology (clinical), business, MESH: Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db632bf05a348a647750b4880e1af0a8Test
https://doi.org/10.1007/s00415-019-09579-4Test

9

دورية أكاديمية

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

المؤلفون: Onat O.E., Gulsuner S., Bilguvar K., Basak A.N., Topaloglu H., Tan M., Tan U.

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: ATP8A2, CAMRQ, cerebellar hypoplasia, quadrupedal locomotion, targeted next-generation sequencing

العلاقة: European Journal of Human Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.1038/ejhg.2012.170Test; https://hdl.handle.net/20.500.12605/17512Test; 21; 281; 285

الإتاحة: https://doi.org/20.500.12605/17512Test
https://doi.org/10.1038/ejhg.2012.170Test
https://hdl.handle.net/20.500.12605/17512Test

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النص الكامل

10

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

المؤلفون: Pegah Ghandil, Malihe Mohamadian, Afsane Bahrami, Mohsen Naseri, Ali Akbar Momen

المصدر: Journal of Clinical Laboratory Analysis

مصطلحات موضوعية: Male, 0301 basic medicine, Microbiology (medical), Proband, Adolescent, Cerebellar Ataxia, Genetic counseling, Clinical Biochemistry, rare disease, Iran, Biology, mental retardation, whole exome sequencing, Consanguinity, 03 medical and health sciences, symbols.namesake, Rare Diseases, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual Disability, Exome Sequencing, medicine, Humans, Immunology and Allergy, Missense mutation, Phospholipid Transfer Proteins, Child, dysequilibrium syndrome 4, Research Articles, Exome sequencing, Adenosine Triphosphatases, Genetics, Sanger sequencing, Cerebellar ataxia, Biochemistry (medical), Public Health, Environmental and Occupational Health, Hematology, medicine.disease, Hypotonia, Pedigree, Medical Laboratory Technology, ATP8A2, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, Female, medicine.symptom, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b029015c63cbdf336e31b0ce46ae4fa1Test
https://doi.org/10.1002/jcla.23484Test

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