المؤلفون: Machnicki, Marcin M, Guglielmi, Valeria, Pancheri, Elia, Gualandi, Francesca, Verriello, Lorenzo, Pruszczyk, Katarzyna, Kosinska, Joanna, Sangalli, Antonella, Rydzanicz, Malgorzata, Romanelli, Maria Grazia, Neri, Marcella, Ploski, Rafal, Tonin, Paola, Tomelleri, Giuliano, Stoklosa, Tomasz, Vattemi, Gaetano

المساهمون: Machnicki, Marcin M, Guglielmi, Valeria, Pancheri, Elia, Gualandi, Francesca, Verriello, Lorenzo, Pruszczyk, Katarzyna, Kosinska, Joanna, Sangalli, Antonella, Rydzanicz, Malgorzata, Romanelli, Maria Grazia, Neri, Marcella, Ploski, Rafal, Tonin, Paola, Tomelleri, Giuliano, Stoklosa, Tomasz, Vattemi, Gaetano

مصطلحات موضوعية: LMNA, myofibrillar myopathies, protein aggregate myopathies, RYR1, TTN, whole-exome sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33170376; info:eu-repo/semantics/altIdentifier/wos/WOS:000588254500001; volume:42; issue:7; firstpage:2819; lastpage:2827; numberofpages:9; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/11562/1029610; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85095813605; https://doi.org/10.1007/s10072-020-04876-7

الاتاحة: http://hdl.handle.net/11562/1029610
https://doi.org/10.1007/s10072-020-04876-7

المؤلفون: Maria Grazia Romanelli, Marcella Neri, Lorenzo Verriello, Francesca Gualandi, Paola Tonin, Katarzyna Pruszczyk, Elia Pancheri, Valeria Guglielmi, Rafał Płoski, Tomasz Stoklosa, Marcin M Machnicki, Antonella Sangalli, Joanna Kosińska, Gaetano Vattemi, Małgorzata Rydzanicz, Giuliano Tomelleri

المصدر: Neurological Sciences

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, TTN, LMNA, Dermatology, Biology, medicine.disease_cause, 03 medical and health sciences, Myofibrillar myopathies, Protein Aggregates, 0302 clinical medicine, Exome Sequencing, medicine, RYR1, Missense mutation, Humans, Gene, Exome sequencing, Genetics, Mutation, Protein aggregate myopathies, General Medicine, Phenotype, Psychiatry and Mental health, 030104 developmental biology, Whole-exome sequencing, Original Article, Female, Neurology (clinical), 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b2012e97ddcc68a8b582d7025e5267
http://europepmc.org/articles/PMC7654353

المؤلفون: Hans H. Goebel, Nigel G. Laing

المصدر: Brain Pathol

مصطلحات موضوعية: Rapidly progressive course, General Neuroscience, macromolecular substances, Myosins, Protein aggregation, Biology, Clinical onset, Actins, Pathology and Forensic Medicine, Cell biology, Protracted course, Muscular Diseases, Biochemistry, Myosin, Humans, MYH7, Neurology (clinical), MINI‐SYMPOSIUM: Protein Aggregate Myopathies, Gene, Actin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2960358202587ab7d4b4094e25b5f74d
https://doi.org/10.1111/j.1750-3639.2009.00287.x

المؤلفون: Benedikt Schoser, Rolf Schröder

المصدر: Brain Pathol

مصطلحات موضوعية: Pathology, medicine.medical_specialty, General Neuroscience, Zaspopathy, Plectin, Protein aggregation, Biology, medicine.disease, Filamin, Phenotype, Pathology and Forensic Medicine, Muscular Diseases, Myofibrils, medicine, Humans, Myotilin, Desmin, Neurology (clinical), MINI‐SYMPOSIUM: Protein Aggregate Myopathies, LIM domain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d0d4a1f2f57fd38966a1fc4151c651
https://doi.org/10.1111/j.1750-3639.2009.00289.x

المؤلفون: Anna Nogalska, Valerie Askanas, W. King Engel

المصدر: Brain Pathol

مصطلحات موضوعية: Protein Folding, General Neuroscience, Endoplasmic reticulum, Autophagy, education, Proteins, Protein aggregation, Biology, medicine.disease, Inclusion bodies, Pathology and Forensic Medicine, Cell biology, Myositis, Inclusion Body, medicine.anatomical_structure, Biochemistry, Lysosome, Unfolded protein response, medicine, Humans, Neurology (clinical), Inclusion body myositis, MINI‐SYMPOSIUM: Protein Aggregate Myopathies, Intracellular

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac88ebd9aabccd539757a2a478498cc8
https://pubmed.ncbi.nlm.nih.gov/19563541

المؤلفون: Hans H. Goebel

المصدر: Brain Pathol

مصطلحات موضوعية: Biochemistry, Muscular Diseases, business.industry, General Neuroscience, Medicine, Animals, Humans, Neurology (clinical), Protein aggregation, MINI‐SYMPOSIUM: Protein Aggregate Myopathies, business, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1aa99bce791b5fba359a17a65a19f23
https://europepmc.org/articles/PMC8094662/