المؤلفون: Mélanie Annoussamy, Andreea M. Seferian, Aurore Daron, Yann Péréon, Claude Cances, Carole Vuillerot, Liesbeth De Waele, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Charlotte Lilien, Jean‐Yves Hogrel, Pierre Carlier, Emmanuel Fournier, Linda Lowes, Ksenija Gorni, Myriam Ly‐Le Moal, Nicole Hellbach, Timothy Seabrook, Christian Czech, Ricardo Hermosilla, Laurent Servais, the NatHis‐SMA study group

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 359-373 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/5662815653b845ccaffc6ca741781c22

المؤلفون: Jean-Yves Hogrel, Myriam Ly-Le Moal, A. Daron, Teresa Gidaro, Timothy Seabrook, Laurent Servais, Carole Vuillerot, Vincent Laugel, Emmanuel Fournier, Pierre G. Carlier, Ulrike Schara, Yann Péréon, Nicole Hellbach, Andreea Mihaela Seferian, Claude Cances, Ksenija Gorni, M. Annoussamy, Linda Lowes, C. Lilien, Ricardo Hermosilla, Christian Czech, Liesbeth De Waele

المساهمون: Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), SYSNAV, Centre Hospitalier Universitaire de Liège (CHU-Liège), Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University Hospitals Leuven [Leuven], KU Leuven Campus Kulak Kortrijk [Belgium], CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Nouvel Hôpital Civil de Strasbourg-Hôpital de Hautepierre [Strasbourg], University of Duisburg-Essen, University of Oxford, Nationwide Children's Hospital, Hoffman-La Roche Ltd, Translational Medicine, Neuroscience, Institut ROCHE [Boulogne-Billancourt], Roche S.A.S, Roche Innovation Center [Basel, Switzerland], Pfizer, Gestionnaire, Hal Sorbonne Université, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), CHU Toulouse [Toulouse], Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA)-Hôpital de Hautepierre [Strasbourg]-Nouvel Hôpital Civil de Strasbourg, University of Oxford [Oxford], Universität Duisburg-Essen = University of Duisburg-Essen [Essen]

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 359-373 (2021)
Annals of Clinical and Translational Neurology, Wiley, 2021, 8 (2), pp.359-373. ⟨10.1002/acn3.51281⟩

مصطلحات موضوعية: 0301 basic medicine, Vital capacity, Time Factors, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Medizin, MESH: Respiratory Function Tests, NASAL INSPIRATORY PRESSURE, Severity of Illness Index, Pulmonary function testing, MESH: Magnetic Resonance Imaging, Disability Evaluation, 0302 clinical medicine, MESH: Muscular Atrophy, Spinal, MESH: Child, Longitudinal Studies, MESH: Nerve Tissue Proteins, Child, MESH: Longitudinal Studies, Research Articles, VALUES, General Neuroscience, MESH: Muscle Strength, MESH: Disability Evaluation, RNA-Binding Proteins, SMA, Magnetic Resonance Imaging, MESH: Motor Activity, Respiratory Function Tests, medicine.anatomical_structure, MESH: Young Adult, Child, Preschool, Anesthesia, Disease Progression, Upper limb, MESH: Disease Progression, Erratum, Life Sciences & Biomedicine, RC321-571, Research Article, Adult, Adolescent, Clinical Neurology, Neurosciences. Biological psychiatry. Neuropsychiatry, Nerve Tissue Proteins, Motor Activity, Muscular Atrophy, Spinal, Upper Extremity, Young Adult, 03 medical and health sciences, FEV1/FVC ratio, Statistical significance, MESH: Severity of Illness Index, medicine, Humans, Muscle Strength, RC346-429, MESH: Adolescent, Science & Technology, MESH: Humans, business.industry, MESH: Time Factors, MESH: Child, Preschool, Neurosciences, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Survival of motor neuron, MESH: Adult, Spinal muscular atrophy, MESH: Upper Extremity, medicine.disease, 030104 developmental biology, MESH: RNA-Binding Proteins, Neurology. Diseases of the nervous system, Neurology (clinical), Neurosciences & Neurology, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b05a8b9907c355ce4ae932b73230e98b
http://europepmc.org/articles/PMC7886049

المؤلفون: Juergen Dukart, Omar Khwaja, Carlo Brugnara, Dietmar Volz, Stephane Nave, Annette Koerner, Ricardo Hermosilla, Dominik Kraus, Erica Winter, Vip Viprakasit, Patrick Cech, Ali T. Taher, Maria Domenica Cappellini

المصدر: British journal of haematology 194(2), 474–481 (2021). doi:10.1111/bjh.17479

مصطلحات موضوعية: Bitopertin, chemistry.chemical_classification, Reactive oxygen species, Glycine transport, business.industry, Hematology, Pharmacology, β thalassaemia, chemistry, Oral administration, Transfusion dependence, Medicine, In patient, ddc:610, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53b29f7c139f162902d17a743fee507
https://juser.fz-juelich.de/record/893884

المؤلفون: Bernd Kuhn, Franziska Weibel, Rodolfo Gasser, Marco Prunotto, Solange Moll, Martine Stihle, R. Daniel Bonfil, Bernard Gsell, Christian Faul, Remo Hochstrasser, Sabine Uhles, Guy Georges, Ann C. Petersen, Javier Varona Santos, Ricardo Hermosilla, Alexander L. Satz, Hans Richter, Rafael Fridman, Marc Bedoucha, Markus G. Rudolph, Bernd Buettelmann, Anja Harmeier, Martin Ritter, Melanie N. Hug, Alessia Fornoni, Judith Molina-David, Jin Ju Kim, Sylwia Huber, Buelent Kocer, Dominique Burger

المصدر: ACS Chemical Biology
ACS Chemical Biology, Vol. 14, No 1 (2019) pp. 37-49

مصطلحات موضوعية: Collagen Type IV, 0301 basic medicine, Src Homology 2 Domain-Containing, Transforming Protein 1, Nephritis, Hereditary, ddc:616.07, Kidney, Kidney Function Tests, Autoantigens, 01 natural sciences, Biochemistry, Mice, 03 medical and health sciences, Discoidin Domain Receptor 1, In vivo, Renal fibrosis, Animals, Kinome, Phosphorylation, Receptor, Gene knockout, Mice, Knockout, DDR1, 010405 organic chemistry, Chemistry, Epithelial Cells, Articles, DNA, General Medicine, 0104 chemical sciences, Cell biology, Disease Models, Animal, 030104 developmental biology, Molecular Medicine, Discoidin domain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d66479d1a5d10d891a793eb7b70967
https://doi.org/10.1021/acschembio.8b00866

المؤلفون: Tatiana Reimer, Ignacio Delgado-martinez, Ricardo Hermosilla, Arne Engelsberg, Ralf Nehring, Armin Rehm

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://edoc.mdc-berlin.de/7580/1/7580oa.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.578.1765; http://edoc.mdc-berlin.de/7580/1/7580oa.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.578.1765
http://edoc.mdc-berlin.de/7580/1/7580oa.pdf

المؤلفون: Corinne Solier, Ricardo Hermosilla, Geoffrey A. Block, Annette Schell-Steven, Chek Ing Kiu Weber, Everson Nogoceke, Guillemette Duchateau-Nguyen

المصدر: Clinical Kidney Journal

مصطلحات موضوعية: cardiovascular risk, Transplantation, medicine.medical_specialty, business.industry, Original Contributions, arterial calcification, Renal function, biomarkers, medicine.disease, Gastroenterology, Arterial calcification, Blood pressure, Endocrinology, Nephrology, Aldesleukin, Clinical Research, inflammation, Internal medicine, Diabetes mellitus, medicine, Aortic valve calcification, business, chronic kidney disease, Kidney disease, Calcification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbe900d01bcf6af0dbd1b5e0e40939d
http://europepmc.org/articles/PMC3968563

المؤلفون: Claude Cances, Jean-Marie Cuisset, Linda Lowes, Vincent Laugel, Laurent Servais, Teresa Gidaro, A. Chabanon, M. Annoussamy, Ulrike Schara, A. Daron, Omar Khwaja, Carole Vuillerot, Ricardo Hermosilla, J.Y. Hogrel, Andreea Mihaela Seferian, Nathalie Goemans, E. Gargaun, Yann Péréon, Pierre G. Carlier, Christian Czech

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Longitudinal data, business.industry, Medizin, Spinal muscular atrophy, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32f79ed98b454a8bf35ac11bd212b4f2

المؤلفون: Stephane Nave, Annette Koerner, Erica Winter, Ricardo Hermosilla, Maria Domenica Cappellini, Vip Viprakasit, Ali T. Taher, Franziska Schaedeli Stark, Volz Dietmar, Norman A. Mazer, Patrick Cech, Omar Khwaja, Dominik Kraus, Juergen Dukart

المصدر: Blood. 132:3635-3635

مصطلحات موضوعية: 0301 basic medicine, Bitopertin, Oncology, Ineffective erythropoiesis, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Immunology, Mean corpuscular hemoglobin, Beta thalassemia, Phases of clinical research, Cell Biology, Hematology, medicine.disease, medicine.disease_cause, Biochemistry, 03 medical and health sciences, 030104 developmental biology, Tolerability, Internal medicine, Pharmacodynamics, medicine, Adverse effect, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::394a9259d2043c5b3b23344eef83eea2
https://doi.org/10.1182/blood-2018-99-114776

المؤلفون: Andrea Pathe-Neuschäfer-Rube, M Kuna, Ralf Schülein, Gerhard Püschel, Ricardo Hermosilla, Frank Neuschäfer-Rube

المصدر: British Journal of Pharmacology. 145:1132-1142

مصطلحات موضوعية: Pharmacology, Agonist, G protein-coupled receptor kinase, medicine.drug_class, Homologous desensitization, medicine, Enzyme-linked receptor, 5-HT5A receptor, Biology, Interleukin-13 receptor, Protein kinase A, Prostaglandin receptor, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2d76c025de7ce040e89418fe558e92a5
https://doi.org/10.1038/sj.bjp.0706282

المؤلفون: Eberhard Krause, Morad Oueslati, Ralf Schülein, Alexander Oksche, Ricardo Hermosilla, Eva Schönenberger, Ute Donalies, Walter Rosenthal

المصدر: Traffic. 5:993-1005

مصطلحات موضوعية: Endoplasmic reticulum, Cell Biology, Biology, Golgi apparatus, Biochemistry, Cell biology, symbols.namesake, Structural Biology, Coatomer, Arginine vasopressin receptor 2, Genetics, symbols, Receptor, Molecular Biology, hormones, hormone substitutes, and hormone antagonists, Secretory pathway, Vasopressin receptor, G protein-coupled receptor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::16afc349e7813e9c170de07997255ff7
https://doi.org/10.1111/j.1600-0854.2004.00239.x

المؤلفون: Jean-Marie Cuisset, A. Chabanon, L. Servais, Teresa Gidaro, Carole Vuillerot, David Vissiere, M. Annoussamy, Andreea Mihaela Seferian, Christian Czech, Amélie Moraux, Ricardo Hermosilla, E. Toledano, A. Daron, Omar Khwaja, Claude Cances, G. Quicke, E. Gasnier, E. Gargaun, Yann Péréon

المصدر: Neuromuscular Disorders. 27:S225

مصطلحات موضوعية: medicine.medical_specialty, Observational Trial, business.industry, Spinal muscular atrophy, medicine.disease, Activity monitoring, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c9045793e395f7f0d302c20dafa6588f
https://doi.org/10.1016/j.nmd.2017.06.469

المؤلفون: Lázaro Zurich Z., Betty San Martín N., Consuelo Borie P., Ricardo Hermosilla R.

المصدر: Avances en Ciencias Veterinarias. 8

مصطلحات موضوعية: Economics and Econometrics, Materials Chemistry, Media Technology, Forestry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6a3ee78fd84ba571b0e7acc319bb3e2f
https://doi.org/10.5354/0716-260x.1993.6105

المؤلفون: Carlos Pedraza G., Ricardo Hermosilla R., Daniel Morales B., Lázaro Zurich Z.

المصدر: Avances en Ciencias Veterinarias. 10

مصطلحات موضوعية: Economics and Econometrics, Materials Chemistry, Media Technology, Forestry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::32352e8fe9e4da5ebfcdcac20973465e
https://doi.org/10.5354/0716-260x.1995.10444

المؤلفون: Ricardo Hermosilla

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c286d5281c9200f8868989e32252e80a
https://doi.org/10.1007/978-3-540-38918-7_145

المؤلفون: Viola Oorschot, Antje Schmidt, Ralf Schülein, Michael Beyermann, Ricardo Hermosilla, Morad Oueslati, Walter Rosenthal, Judith Klumperman, Burkhard Wiesner, Eva Schönenberger

المصدر: The Journal of biological chemistry. 282(28)

مصطلحات موضوعية: medicine.medical_specialty, Receptors, Vasopressin, Mutant, Mutation, Missense, Golgi Apparatus, Diabetes Insipidus, Nephrogenic, Cell-Penetrating Peptides, Biology, Endoplasmic Reticulum, Biochemistry, Cell Line, symbols.namesake, Arginine vasopressin receptor 2, Internal medicine, medicine, Humans, Calcium Signaling, Molecular Biology, Secretory pathway, Endoplasmic reticulum, Cell Biology, Golgi apparatus, Nephrogenic diabetes insipidus, medicine.disease, Transport protein, Cell biology, Protein Transport, Endocrinology, Membrane protein, Amino Acid Substitution, symbols, Calcium, Carrier Proteins, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0810b8e2283a54f1335528a9a37157c
https://pubmed.ncbi.nlm.nih.gov/17491025

المؤلفون: Christian Czech, A. Phelep, A. Chabanon, G. Ramey, Vincent Laugel, Ulrike Schara, Ricardo Hermosilla, Laurent Servais, Jean-Marie Cuisset, Claude Cances, Yann Péréon, Pierre G. Carlier, Linda Lowes, M. Annoussamy, Emmanuel Fournier, J.Y. Hogrel, A. Daron, Carole Vuillerot, Nathalie Goemans, Thomas Voit

المصدر: Neuromuscular Disorders. 25:S195

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Medizin, Spinal muscular atrophy, medicine.disease, Natural history, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Medicine, Neurology (clinical), business, Prospective cohort study, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::885d5952109d1577a3270fb0ab976622
https://doi.org/10.1016/j.nmd.2015.06.045

المؤلفون: Tatiana A Reimer, Armin Rehm, Ignacio Delgado-Martinez, Constantin Rüder, Ralf B. Nehring, Ricardo Hermosilla, Arne Engelsberg, Bernd Dörken

المصدر: Molecular biology of the cell. 16(3)

مصطلحات موضوعية: Transcription, Genetic, Vesicular Transport Proteins, Hippocampus, PC12 Cells, Cell membrane, Neuropeptide Y, Phosphorylation, Glutathione Transferase, Neurons, Neurotransmitter Agents, Microscopy, Confocal, SNAP25, Brain, Transfection, Articles, Cell biology, Electrophysiology, medicine.anatomical_structure, Electrophoresis, Polyacrylamide Gel, Plasmids, Protein Binding, DNA, Complementary, SNAPAP, Recombinant Fusion Proteins, Immunoblotting, Biology, Exocytosis, Adenoviridae, Cell Line, Gene product, Antigens, Neoplasm, Polysaccharides, Two-Hybrid System Techniques, SNAP23, medicine, Animals, Humans, Immunoprecipitation, Molecular Biology, Gene Library, Cell Membrane, Cell Biology, Semliki forest virus, Protein Structure, Tertiary, Rats, Protein Biosynthesis, alpha 1-Antitrypsin, Carrier Proteins, Protein Processing, Post-Translational, Synaptosomes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::118e4ede3b0774f6f679deddd00bbdcd
https://pubmed.ncbi.nlm.nih.gov/15635093

المؤلفون: Morad Oueslati, Martina Alken, Ralf Schülein, Walter Rosenthal, Ricardo Hermosilla, Jens Furkert, Doreen Wietfeld, Claudia Rutz, Anne Scholz, Michael Beyermann, Robert Köchl, Ute Donalies

المصدر: Biochemical journal, 390(2): 455-464

مصطلحات موضوعية: Receptor expression, B-cell receptor, Molecular Sequence Data, Biology, Protein Sorting Signals, Biochemistry, Receptors, Corticotropin-Releasing Hormone, Cell Line, Enzyme-linked receptor, Animals, Humans, 5-HT5A receptor, Amino Acid Sequence, Molecular Biology, Corticotropin-Releasing Factor Receptor 1, Cell Biology, Molecular biology, signal peptide, functional receptor, translocon, G-protein-coupled receptor (GPCR), corticotropin-releasing factor receptor 1 (CRF-R1), endoplasmic reticulum, Rats, Up-Regulation, Protein Transport, Interleukin-21 receptor, Mutation, Estrogen-related receptor gamma, Relaxin/insulin-like family peptide receptor 2, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb399b2d0574c1068a3fa3da49247f64
http://www.biochemj.org/content/390/2/455.figures-only

المؤلفون: Ricardo, Hermosilla, Morad, Oueslati, Ute, Donalies, Eva, Schönenberger, Eberhard, Krause, Alexander, Oksche, Walter, Rosenthal, Ralf, Schülein

المصدر: Traffic (Copenhagen, Denmark). 5(12)

مصطلحات موضوعية: Models, Molecular, Protein Folding, Protein Transport, Receptors, Vasopressin, Genes, Reporter, Cytoplasmic Vesicles, Molecular Sequence Data, Mutation, Humans, Amino Acid Sequence, Endoplasmic Reticulum, Protein Structure, Secondary

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dbddab2d0d196251e53fd602ff94a1aa
https://pubmed.ncbi.nlm.nih.gov/15522100

المؤلفون: Stefan Wüller, Walter Rosenthal, Burkhard Wiesner, Gerd Krause, Ricardo Hermosilla, Alexander Oksche, Jens Furkert, Ralf Schülein, Michael Schaefer, Anja Löffler

المصدر: The Journal of biological chemistry. 279(45)

مصطلحات موضوعية: Models, Molecular, Protein Folding, Receptors, Vasopressin, Time Factors, Protein Conformation, Endoplasmic Reticulum, Biochemistry, Cell membrane, Mice, Protein structure, Arginine vasopressin receptor 2, Fluorescence Resonance Energy Transfer, Receptor, Peptide sequence, Immunohistochemistry, Cell biology, Transmembrane domain, medicine.anatomical_structure, Antidiuretic Hormone Receptor Antagonists, Plasmids, Protein Binding, Morpholines, Recombinant Fusion Proteins, Green Fluorescent Proteins, Immunoblotting, Molecular Sequence Data, Biology, Transfection, Cell Line, medicine, Animals, Humans, Biotinylation, Spiro Compounds, Amino Acid Sequence, Molecular Biology, Endoplasmic reticulum, Lasers, Cell Membrane, Wild type, Biological Transport, Cell Biology, Molecular biology, Protein Structure, Tertiary, Kinetics, Microscopy, Fluorescence, Mutation, Peptides, Protein Processing, Post-Translational, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5af35330c63c6cf1cf14cedb71de006
https://pubmed.ncbi.nlm.nih.gov/15319430