المؤلفون: Mohnish Suri, Fowzan S. Alkuraya, Ghada Gosadi, Jane Ravenscroft, Hessa S. Alsaif, David Devadason, Mohammad Al-Owain, Yousef Binamer, Martin E. Barrios-Llerena

المصدر: Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Protein subunit, Adaptor Protein Complex 1, ATP7A, 03 medical and health sciences, 0302 clinical medicine, Hepatolenticular Degeneration, Report, Genetics, medicine, Humans, Adaptor Protein Complex beta Subunits, Cation Transport Proteins, Genetics (clinical), biology, MEDNIK syndrome, Ichthyosis, Homozygote, Copper toxicity, Genetic Diseases, Inborn, Infant, Syndrome, medicine.disease, Phenotype, Protein Subunits, Protein Transport, 030104 developmental biology, Copper-Transporting ATPases, Child, Preschool, Mutation, biology.protein, Female, Menkes disease, Ceruloplasmin, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2659ebc4414c004948bfd14f749ef5Test
https://doi.org/10.1016/j.ajhg.2019.09.020Test

المؤلفون: Alessandra Ferlini, Francesca Gualandi, Mert Karakaya, Rocco Liguori, Stefano Squarzoni, Fernanda Fortunato, V. Simioni, Marcella Neri, Elisabetta Sette, Domenico De Grandis, Alex Incensi, Vincent Timmerman, Markus Storbeck, Rita Selvatici, Valeria Tugnoli, C. Scotton, Brunhilde Wirth, Stefania Bigoni, Vincenzo Donadio

المساهمون: Gualandi F., Sette E., Fortunato F., Bigoni S., De Grandis D., Scotton C., Selvatici R., Neri M., Incensi A., Liguori R., Storbeck M., Karakaya M., Simioni V., Squarzoni S., Timmerman V., Wirth B., Donadio V., Tugnoli V., Ferlini A.

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Retrograde ejaculation, Pathology, medicine.medical_specialty, Peripheral neuropathy, ATP7A, Occipital horn syndrome, Socio-culturale, medicine.disease_cause, Cutis Laxa, Muscular Atrophy, Spinal, Autonomic neuropathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, ATP7A mutation, Motor Neuron Disease, Menkes Kinky Hair Syndrome, Genetic Association Studies, Genetics (clinical), Aged, Adenosine Triphosphatases, Mutation, business.industry, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Ehlers-Danlos Syndrome, Menkes disease, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a3fd435375c5c8fdc015839378ff6bTest
https://doi.org/10.1016/j.nmd.2019.08.008Test

المؤلفون: Viktor J Romero-Diaz, Margarita L Martinez-Fierro, Edith Cardenas-Vargas, Griselda A Cabral-Pacheco, Iram P. Rodriguez-Sanchez, Marisol Ibarra-Ramírez, Idalia Garza-Veloz, Joke Beuten, Jesus Acuña-Quiñones, Vania Z. Zuñiga-Ramirez, Samantha E. Sanchez-Guerrero, Laura Elia Martínez-de-Villarreal, Ivan Delgado-Enciso, Laura Villarreal-Martínez

المصدر: Genes, Vol 12, Iss 744, p 744 (2021)
Genes
Volume 12
Issue 5

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Proteomics, Adolescent, Proteome, ATP7A, Down-Regulation, rare disease, Context (language use), QH426-470, Article, 03 medical and health sciences, Immune System Phenomena, Young Adult, 0302 clinical medicine, Cell Movement, medicine, Genetics, Humans, Menkes Kinky Hair Syndrome, Genetics (clinical), Exome sequencing, biology, Infant, Menkes disease, medicine.disease, hypopigmentary disorder, Blood proteins, Molecular biology, Up-Regulation, ATP7A Gene, silvery hair syndrome, 030104 developmental biology, Copper-Transporting ATPases, Mutation, biology.protein, Female, Ceruloplasmin, exome sequencing, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669c93b59010428d21281009bf99c3fbTest
https://www.mdpi.com/2073-4425/12/5/744Test

المؤلفون: Victor Faundez, Christoph J. Fahrni, Gabriele Meloni, Daisy Bourassa, Shefali Harankhedkar, Stephanie A. Zlatic, Jenifer S. Calvo, M. Thomas Morgan, Adam M. McCallum

المصدر: Proceedings of the National Academy of Sciences. 116:12167-12172

مصطلحات موضوعية: Phosphines, Mutant, chemistry.chemical_element, Buffers, Ligands, chemistry.chemical_compound, medicine, Menkes Kinky Hair Syndrome, Fluorescent Dyes, Multidisciplinary, Ligand, Glutathione, Fibroblasts, medicine.disease, Copper, Dissociation constant, Cytosol, Microscopy, Fluorescence, Multiphoton, chemistry, Mutation, Physical Sciences, Biophysics, Menkes disease, Intracellular

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8998ba44c9a655c8f3b74610b0d44d80Test
https://doi.org/10.1073/pnas.1900172116Test

المؤلفون: Bruna Cristine Chwal, Ana Carolina de Freitas Lopes, Jonas Alex Morales Saute, Silvana Perini, Maria Angelica Pires Ferreira, Filippo Vairo

المصدر: Molecular Genetics and Metabolism. 126:6-13

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, MEDLINE, Prenatal diagnosis, Disease, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, Catecholamines, 0302 clinical medicine, Endocrinology, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Menkes Kinky Hair Syndrome, Intensive care medicine, Molecular Biology, Disease burden, Clinical Trials as Topic, business.industry, Guideline, medicine.disease, Early Diagnosis, Mutation, Practice Guidelines as Topic, Anxiety, Female, Menkes disease, medicine.symptom, business, Copper, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10af887e4cf24b76a1a02a888f578376Test
https://doi.org/10.1016/j.ymgme.2018.12.005Test

المؤلفون: Santiago Cruz, Andres Vidal, Juan Pinilla, Gabriela Caicedo-Herrera, Harry Pachajoa, Estephania Candelo

المصدر: The Application of Clinical Genetics. 11:151-155

مصطلحات موضوعية: 0301 basic medicine, Mutation, business.industry, Genodermatosis, Disease, medicine.disease, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, Epilepsy, ATP7A Gene, Exon, 030104 developmental biology, 0302 clinical medicine, Genotype-phenotype distinction, Genetics, medicine, Menkes disease, 030212 general & internal medicine, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cc173d9ab6e0fc348c1b52c49387265eTest
https://doi.org/10.2147/tacg.s180087Test

المؤلفون: Andrés Nascimento, Angels García-Cazorla, Abel Sola, Jaume Colomer, Daniel Natera-de Benito, Carlos Ortez, Jordi Muchart, Susana Boronat, Judith Armstrong, Paulo Rego Sousa, Francesc Palau, Cristina Jou, Janet Hoenicka, Mónica Rebollo, Jessica Expósito-Escudero, Laura Carrera-García

المصدر: PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ATP7A, Occipital horn syndrome, medicine.disease_cause, Cutis Laxa, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Internal medicine, Distal hereditary motor neuropathy, ATP7B, Medicine, Humans, Expressivity (genetics), Child, Mutation, Portugal, Região Autónoma da Madeira, business.industry, Copper toxicity, Copper replacement therapy, medicine.disease, Phenotype, Pedigree, ATP7A Gene, Endocrinology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Menkes disease, Ehlers-Danlos Syndrome, Neurology (clinical), business, 030217 neurology & neurosurgery, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1612c7f928bafcaf901dd15005785Test
https://pubmed.ncbi.nlm.nih.gov/33894639Test

المؤلفون: Dominique Menard, Corinne Magdelaine, I. Ceballos, Alinoë Lavillaureix, Sylvie Jaillard, Anne-Sophie Lia, Gilles Edan, Marie-Christine Minot, Maïa Proisy, Sylvie Odent, Paul Sauleau, Catherine Tréguier, Mélanie Fradin, Laurent Pasquier, Chloé Quélin

المساهمون: CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Limoges, CCSD, Accord Elsevier, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2020, 63 (12), pp.104087. ⟨10.1016/j.ejmg.2020.104087⟩
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104087. ⟨10.1016/j.ejmg.2020.104087⟩

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], ATP7A, Occipital horn syndrome, Mutation, Missense, medicine.disease_cause, Cutis Laxa, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, X-linked distal spinal muscular atrophy-3, Genetics, Medicine, Missense mutation, Humans, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, business.industry, Dysautonomia, Genetic Diseases, X-Linked, General Medicine, Anatomy, Menkes disease, medicine.disease, ATP7A Protein, [SDV] Life Sciences [q-bio], Phenotype, Copper-Transporting ATPases, Distal motor neuropathy, Ehlers-Danlos Syndrome, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff34ec3d962079c99876ba438d5d172Test
https://hal.science/hal-03006935Test

المؤلفون: Justyna Antoniuk, Zenon Rajfur, Wojciech Krzeptowski, Aleksandra Bednarz, Robert Staroń, Rafał R. Starzyński, Zbigniew Baster, Aneta Jończy, Olga Pierzchała, Mateusz Ogórek, Małgorzata Lenartowicz, Paweł Lipiński, Paweł Grzmil

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863:1410-1421

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, mottled mice, Ferroportin, Mutant, ATP7A, Biology, medicine.disease_cause, 03 medical and health sciences, Internal medicine, Gene expression, medicine, Molecular Biology, Mutation, 030109 nutrition & dietetics, copper supplementation, medicine.disease, ATP7A Gene, 030104 developmental biology, Endocrinology, menkes disease, Immunology, biology.protein, Molecular Medicine, Menkes disease, ferroportin, iron metabolism, Copper deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::815fab39ca3e2e51e14feca38b289363Test
https://doi.org/10.1016/j.bbadis.2017.02.020Test

المؤلفون: Shigeo Kure, Mitsutoshi Munakata, Hideyo Takahashi, Norihiko Tani, Kazuo Maruyama, Yoshimasa Sakamoto, Hiroko Kodama, Kazuhiko Kimura

المصدر: Pediatric Research. 84:770-777

مصطلحات موضوعية: Male, Thiosemicarbazones, 0301 basic medicine, medicine.medical_specialty, ATP7A, Administration, Oral, Ileum, Weight Gain, Enteral administration, Mice, 03 medical and health sciences, 0302 clinical medicine, Coordination Complexes, Oral administration, Internal medicine, Animals, Medicine, Cytochrome c oxidase, Tissue Distribution, Menkes Kinky Hair Syndrome, Dose-Response Relationship, Drug, biology, business.industry, medicine.disease, Survival Rate, Disease Models, Animal, Dose–response relationship, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Copper-Transporting ATPases, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Menkes disease, Ceruloplasmin, business, Copper, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd636502917e2635b49aec758e62036bTest
https://doi.org/10.1038/s41390-018-0116-7Test