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: Amit Rawat, Gurjit Kaur, Satish Sharma, Dharmagat Bhattarai, Aaqib Zaffar Banday, Rohit Sadanand, Kanika Arora

المصدر: Applied Microscopy
Applied Microscopy, Vol 51, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Microscopy, business.industry, QH201-278.5, Hair structure, General Medicine, Disease, Review, Molecular diagnostics, medicine.disease, Cutaneous Disorders, Stages of growth, Pathognomonic, Diagnosis, medicine, Menkes disease, business, Intensive care medicine, Griscelli syndrome, Hair, Primary health care

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::751ca3f3f05a2c5c4afb391bf157f47fTest
https://pubmed.ncbi.nlm.nih.gov/34843009Test

المؤلفون: Paulina Vázquez-Arroyo, Marimar Sáez-de-Ocariz, Ana Sylvia Aguilar-Sarmiento, Maria Adelaida Garcés-Abad, María Teresa García-Romero, Carola Durán-McKinster

المصدر: Skin Appendage Disord

مصطلحات موضوعية: Pathology, medicine.medical_specialty, integumentary system, business.industry, Novel Insights from Clinical Practice, Microscopy, Medicine, Menkes disease, Dermatology, business, medicine.disease, Trichoscopy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84562e0c5753faeeb2fece267d9f4aaTest
https://europepmc.org/articles/PMC8787585Test/

المؤلفون: Ridhi Sood, Chaithanya Reddy, Kirti Gupta, Azhar Navid, Neha Saharan, Jitendra Kumar Sahu, Balamurugan Thirunavukkarasu

المصدر: Clinical neuropathology. 40(5)

مصطلحات موضوعية: Male, Cerebellum, Pathology, medicine.medical_specialty, Autopsy, Pathology and Forensic Medicine, Cortex (anatomy), medicine, Humans, Menkes Kinky Hair Syndrome, medicine.diagnostic_test, business.industry, Cerebrum, Metabolic disorder, Brain, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, medicine.anatomical_structure, nervous system, Neurology, Gliosis, Menkes disease, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3867958a3b3a07e65f4fcff279fd3fc6Test
https://pubmed.ncbi.nlm.nih.gov/34032205Test

المؤلفون: Zhu, Juncheng, Liao, Yi, Li, Xuesheng, Jia, Fenglin, Ma, Xinmao, Qu, Haibo

المصدر: BMC Pediatr ; ISSN:1471-2431 ; Volume:24 ; Issue:1

مصطلحات موضوعية: Bone, Brain, Copper metabolism disorder, Image, Menkes disease

العلاقة: https://doi.org/10.1186/s12887-024-04885-xTest; https://pubmed.ncbi.nlm.nih.gov/38926644Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11202368Test/

الإتاحة: https://doi.org/10.1186/s12887-024-04885-xTest
https://pubmed.ncbi.nlm.nih.gov/38926644Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11202368Test/

المؤلفون: G.O. Momot, I.S. Zelenkova, A.A. Shalygina, E.V. Krukovich

المصدر: Yakut Medical Journal. :116-118

مصطلحات موضوعية: Genetics, ATP7A Gene, business.industry, Copper metabolism, Mutation (genetic algorithm), Medicine, Menkes disease, Clinical case, business, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5588cdca001f677cd41825b37bc59f00Test
https://doi.org/10.25789/ymj.2021.75.30Test

المؤلفون: Hussain, Faiza, Olson, John S., Wittung-Stafshede, Pernilla

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2008 Aug 01. 105(32), 11158-11163.

الوصول الحر: https://www.jstor.org/stable/25463309Test

المؤلفون: Schlief, Michelle L., West, Tim, Craig, Ann Marie, Holtzman, David M., Gitlin, Jonathan D.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2006 Oct 01. 103(40), 14919-14924.

الوصول الحر: https://www.jstor.org/stable/30050674Test

المؤلفون: Teresita Padilla-Benavides, Lobna Elkhadragy, Monserrat Olea-Flores, Kyle M. Schachtschneider, Alyssa Carlson, May T Maung, Napoleón Navarro-Tito

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental BiologyREFERENCES. 35(9)

مصطلحات موضوعية: Mitochondrial Diseases, ATP7A, Regulator, medicine.disease_cause, Biochemistry, Mitochondrial myopathy, Metabolic Diseases, Genetics, medicine, Animals, Homeostasis, Humans, Molecular Biology, Chemistry, Biological Transport, Neurodegenerative Diseases, medicine.disease, Cell biology, Copper-Transporting ATPases, Cancer cell, Menkes disease, Signal transduction, Carcinogenesis, Copper, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4fb172aeccdcff301665b1ea97786b8Test
https://pubmed.ncbi.nlm.nih.gov/34390520Test