المؤلفون: Eylem Emek Akyürek, Francesca Busato, Leonardo Murgiano, Elisa Bianchini, Marcello Carotti, Dorianna Sandonà, Cord Drögemüller, Arcangelo Gentile, Roberta Sacchetto

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 20, p 12364 (2022)

مصطلحات موضوعية: skeletal muscle diseases, cattle congenital pseudomyotonia, human Brody disease, sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1), ATP2A1 gene, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/20/12364; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/870aec537dcb4349be2b386a8edd0f0c

المؤلفون: Karpati, G., MacLennan, D. H.

المساهمون: Serratrice, Georges, editor^Aff1, Pouget, Jean, editor^Aff1, Azulay, Jean-Philippe, editor^Aff1

المصدر: Exercise Intolerance and Muscle Contracture. :45-54

Degree: MD, FRCP
MD

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المؤلفون: Giuliano Tomelleri, Anna Russignan, Marcella Neri, Toin H. van Kuppevelt, Paola Tonin, Matteo Marini, Consuelo Poli, Gaetano Vattemi, Arie Oosterhof, Paola Rimessi, Valeria Guglielmi, Alessandra Ferlini, Francesca Gualandi

المصدر: Journal of Neuropathology and Experimental Neurology, 69, 246-52
Journal of Neuropathology and Experimental Neurology, 69, 3, pp. 246-52

مصطلحات موضوعية: Male, Pathology, Biopsy, Myopathy, DNA Mutational Analysis, Muscle Fibers, Skeletal, Sarcoplasm, 2-Dimensional gel electrophoresis, ATP2A1 gene, Brody disease, Sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1, 0302 clinical medicine, Muscle Hypertonia, 0303 health sciences, Exercise Tolerance, medicine.diagnostic_test, Genetic disorder, General Medicine, Sarcoplasmic/endoplasmic reticulum Ca, Middle Aged, Sarcoplasmic Reticulum, Phenotype, Muscle relaxation, medicine.anatomical_structure, Neurology, Female, medicine.symptom, 2+, ATPase 1, Genetic Markers, medicine.medical_specialty, Genotype, Down-Regulation, Biology, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Pathology and Forensic Medicine, NO, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Muscular Diseases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Calcium Signaling, Muscle, Skeletal, 030304 developmental biology, Muscle biopsy, Endoplasmic reticulum, Skeletal muscle, medicine.disease, Tissue engineering and pathology [NCMLS 3], Enzyme Activation, Microscopy, Electron, Endocrinology, Mutation, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814d2823efa48a1278c7ab6a1925ba8e
https://doi.org/10.1097/nen.0b013e3181d0f7d5

المؤلفون: Arcangelo Gentile, Cord Drögemüller, Francesco Mascarello, Tosso Leeb, Michaela Drögemüller, Stefania Testoni, Roberta Sacchetto, Ernesto Damiani, Marco Rossi

المساهمون: Drogemuller C., Drögemüller M., Leeb T., Mascarello F., Testoni S., Rossi M., Gentile A., Damiani E., Sacchetto R.

المصدر: Genomics. 92(6):474-477

مصطلحات موضوعية: Male, Myotonia Congenita, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Brody myopathy, Chianina, Biology, Arginine, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Exon, Genetic linkage, Physical Conditioning, Animal, medicine, Genetics, Animals, Humans, Missense mutation, GENETIC DISEASES, Animal model, Amino Acid Sequence, Gene, Brody disease, Skeletal muscle, ATP2A1, medicine.disease, Pedigree, SERCA1, Disease Models, Animal, ATP2A1 GENE, medicine.anatomical_structure, Mutation (genetic algorithm), Mutation testing, BOVINE, Female, Cattle, Isaacs Syndrome

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8afce07437eae11c6364fdcdc64bd415

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المؤلفون: Nicol C. Voermans, Valeria Guglielmi, Elena Pegoraro, Antonio Novelli, C. Scotton, Domenico De Grandis, Bruno Dallapiccola, Alessandra Ferlini, Ernő Zádor, Marcella Neri, Arie Oosterhof, Gaetano Vattemi, Valentina Codemo, Francesca Gualandi, Baziel G.M. van Engelen, Giuliano Tomelleri, Magdolna Kósa, Toin H. van Kuppevelt, Enza Maria Valente, Matteo Marini

المصدر: Molecular Genetics and Metabolism, 110, 1-2, pp. 162-9
Molecular Genetics and Metabolism, 110, 162-9

مصطلحات موضوعية: Protein isoform, Adult, Male, medicine.medical_specialty, ATP2A1 gene, Genotype, Myotonia Congenita, Endocrinology, Diabetes and Metabolism, DCN MP - Plasticity and memory, Sarcoplasm, Muscle Fibers, Skeletal, Biology, Biochemistry, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Tissue Culture Techniques, Exon, Endocrinology, Internal medicine, Genetics, medicine, Brody syndrome, Humans, Amino Acid Sequence, Myopathy, Molecular Biology, Gene, Brody disease, Cells, Cultured, Endoplasmic reticulum, Alternative splicing, Wild type, Sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1), SERCA1, Infant, Exons, Tissue engineering and pathology [NCMLS 3], Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Gene Expression Regulation, Child, Preschool, Mutation, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3debcdad1fde90da29ff6a223136a66
http://hdl.handle.net/11392/1869916

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