المؤلفون: Francesco Muntoni, Giovanni Baranello, Pinki Munot, Mariacristina Scoto, Adnan Manzur, Marion Main, Evelin Milev, Lianne Abbott, Victoria Selby, Amy Wolfe, Annemarie Rohwer, Catherine Rye, Sarah Gregson, Grainne NicFhirleinn, Rosanna Raab, Heather McMurchie, Angela Topping, Faye Mason, Jennie Sheehan, Felicity Vann, Steph Wadsworth, José Longatto, Lindsey Pallant, Nick Emery, Jenny Moustoukas, Sarah D’Urso, Kay White, Efthymia Panagiotopoulou

المصدر: BMJ Open, Vol 15, Iss 1 (2025)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/15/1/e082240.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/bd7225f9e27e40aba6757f1dd71b87ad

المؤلفون: Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1

المؤلفون: Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.910660/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/3fb4b718270d4f3b9aae0d632cd63a13

المؤلفون: Shiwen, Koay, Ryan, Keh, Safiyyah, Asiri, Aisling, Carr, Alex, Rossor, Matilde, Laura, Hadi, Manji, Pinki, Munot, Mary M, Reilly, Michael P, Lunn

المصدر: Paediatric-onset chronic inflammatory demyelinating polyradiculopathy: epidemiology, natural history and disease mimics ; page A41.1-A41

الاتاحة: http://dx.doi.org/10.1136/jnnp-2024-abn.133
https://syndication.highwire.org/content/doi/10.1136/jnnp-2024-ABN.133

المؤلفون: Saraswathy Sabanathan, Deepti Gulhane, Kshitij Mankad, James Davison, Min Tsui Ong, Rahul Phadke, Robert Robinson, Michael Spiller, Emma Wakeling, Sithara Ramdas, Angela F Brady, Meena Balasubramanian, Pinki Munot

المصدر: Neuromuscular Disorders. 33:50-57

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45672be13e855104848d2a267cb57985
https://doi.org/10.1016/j.nmd.2022.10.004

المؤلفون: Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, Stefano C Previtali

المصدر: Brain. 146:806-822

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1470d53f6a9085a56c3c69fa7a5a88
https://doi.org/10.1093/brain/awac452

المؤلفون: Belén Pérez‐Dueñas, Kathleen Gorman, Anna Marcé‐Grau, Juan D. Ortigoza‐Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian

المساهمون: Institut Català de la Salut, [Pérez-Dueñas B, Macaya A] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Pediatria, Obstetrícia, Ginecologia, Medicina Preventiva i Salut Pública, Universitat Autònoma de Barcelona, Bellaterra, Spain. Center for Biomedical Network Research on Rare Diseases (CIBERER) CB06/07/0063, Barcelona, Spain. [Gorman K] Developmental Neurosciences Programme, Great Ormond Street–Institute of Child Health, University College London, London, United Kingdom. Dubowitz neuromuscular Center, Great Ormond Street Hospital for Children, London, United Kingdom. [Marcé-Grau A] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Ortigoza-Escobar JD] Department of Pediatric Neurology, Sant Joan de Déu Hospital, Barcelona, Spain. [Danti FR] Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

مصطلحات موضوعية: Myoclonus, Monoamine Neurotransmitter Disorders, Trastorns motors - Diagnòstic, Nerve Tissue Proteins, personas::Grupos de Edad::niño [DENOMINACIONES DE GRUPOS], infantile parkinsonism, Hyperkinesis, GTP-Binding Protein alpha Subunits, Gi-Go, Deep Brain-Stimulation, Hyperkinetic movement disorders, Chorea, Spectrum, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, hyperkinetic movement disorders, Child, Children, Atenció precoç, Movement Disorders, Infantile parkinsonism, Nervous System Diseases::Central Nervous System Diseases::Movement Disorders [DISEASES], Phosphoric Diester Hydrolases, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Variants, Forkhead Transcription Factors, Persons::Age Groups::Child [NAMED GROUPS], Classification, myoclonus, Dystonia, diagnóstico::diagnóstico precoz [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Neurology, Dystonic Disorders, Deficiency, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::trastornos del movimiento [ENFERMEDADES], Neurology (clinical), Sodium-Potassium-Exchanging ATPase, Trastorns motors - Aspectes genètics, Infants, Mutations, Diagnosis::Early Diagnosis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e52a833a18ac97e7e86869c9abdc0d05
https://doi.org/10.1002/mds.29182

المؤلفون: Bryony, Silksmith, Pinki, Munot, Luke, Starling, Suresh, Pujar, Emma, Matthews

المصدر: The Lancet Child & Adolescent Health. 6:495-508

مصطلحات موضوعية: Apnea, Risk Factors, Pediatrics, Perinatology and Child Health, Developmental and Educational Psychology, Humans, Infant, Nervous System Diseases, Child

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a156039f5710396c1c2023bcdb85f391
https://doi.org/10.1016/s2352-4642(22)00091-8

المؤلفون: Irina T. Zaharieva, Anna Sarkozy, Pinki Munot, Adnan Manzur, GinaO'Grady, John Rendu, Eduardo Malfatti, Helge Amthor, Laurent Servais, J. Andoni Urtizberea, Osorio Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A. Reghan Foley, Chris Holmes, Glyn Williams, Muriel Holder, Sabrina Yum, Livija Medne, Susana Quijano-Roy, Norma B. Romero, Julien Fauré, Lucy Feng, Laila Bastaki, Mark R. Davis, Rahul Phadke, Caroline A. Sewry, Carsten G. Bönnemann, Heinz Jungbluth, Christoph Bachmann, Susan Treves, FrancescoMuntoni

المساهمون: Zaharieva, Irina T., Sarkozy, Anna, Munot, Pinki, Manzur, Adnan, Ginao'Grady, Rendu, John, Malfatti, Eduardo, Amthor, Helge, Servais, Laurent, Andoni Urtizberea, J., Abath Neto, Osorio, Zanoteli, Edmar, Donkervoort, Sandra, Taylor, Juliet, Dixon, Joanne, Poke, Gemma, Reghan Foley, A., Holmes, Chri, Williams, Glyn, Holder, Muriel, Yum, Sabrina, Medne, Livija, Quijano-Roy, Susana, Romero, Norma B., Fauré, Julien, Feng, Lucy, Bastaki, Laila, Davis, Mark R., Phadke, Rahul, Sewry, Caroline A., Bönnemann, Carsten G., Jungbluth, Heinz, Bachmann, Christoph, Treves, Susan Nella, Francescomuntoni

مصطلحات موضوعية: congenital myopathy, excitation–contraction coupling, malignant hyperthermia, STAC3

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30168660; info:eu-repo/semantics/altIdentifier/wos/WOS:000451194400020; volume:39; issue:12; firstpage:1980; lastpage:1994; numberofpages:15; journal:HUMAN MUTATION; info:eu-repo/grantAgreement/EC/H2020/779257; http://hdl.handle.net/11392/2406254; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054709694; https://ora.ox.ac.uk/objects/uuid:54c4177b-aa57-478f-b0d9-a31e1d877de4/download_file?safe_filename=Stac1.pdf&type_of_work=Journal+article

الاتاحة: http://hdl.handle.net/11392/2406254
https://doi.org/10.1002/humu.23635
https://onlinelibrary.wiley.com/doi/10.1002/humu.23635
https://ora.ox.ac.uk/objects/uuid:54c4177b-aa57-478f-b0d9-a31e1d877de4/download_file?safe_filename=Stac1.pdf&type_of_work=Journal+article

المؤلفون: Federica Trucco, Tracey Davis, Renske I. Wadman, Lucia Schottlaender, Mariacristina Scoto, Chiara Brusa, Ramona De Amicis, Giovanni Baranello, Marion Main, Pinki Munot, Adnan Y. Manzur, Francesco Muntoni, Nadia Imbrigiotta, Anna Sarkozy, Simona Bertoli, Alberto Battezzati, Chiara Mastella

المصدر: Neuromuscular Disorders. 31:101-112

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Nutritional Status, Spinal Muscular Atrophies of Childhood, Nissen fundoplication, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Surveys and Questionnaires, medicine, Humans, Prospective Studies, Child, Genetics (clinical), Aged, Retrospective Studies, business.industry, Infant, Spinal muscular atrophy, Middle Aged, medicine.disease, Gastrostomy, United Kingdom, 030104 developmental biology, Italy, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Female, Neurology (clinical), medicine.symptom, Underweight, Deglutition Disorders, business, Body mass index, 030217 neurology & neurosurgery, Oropharyngeal dysphagia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8178e029c5198cfa4fbd6ebf87de3528
https://doi.org/10.1016/j.nmd.2020.12.007

المؤلفون: Alistair T. Pagnamenta, Jenny C. Taylor, Pinki Munot, Adnan Y. Manzur, Mathew Pitt, Jacqueline Palace, Pedro M. Rodríguez Cruz, Imelda Hughes, David Beeson, Sithara Ramdas, Catherine Breen, Ronnie Wright

المصدر: Neuromuscular Disorders. 31:21-28

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Synaptic cleft, Mutation, Missense, Presynaptic Terminals, Neuromuscular transmission, Neuromuscular junction, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Adrenergic beta-2 Receptor Antagonists, Internal medicine, medicine, Humans, Genetics (clinical), Cholinesterase, Myasthenic Syndromes, Congenital, Symporters, biology, business.industry, Homozygote, Sodium, Infant, Newborn, Infant, Membrane Transport Proteins, Congenital myasthenic syndrome, medicine.disease, Acetylcholinesterase, Pedigree, Choline transporter, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Neurology, chemistry, Pediatrics, Perinatology and Child Health, biology.protein, Female, Cholinesterase Inhibitors, Neurology (clinical), business, 030217 neurology & neurosurgery, Acetylcholine, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5521f8f59403df670db5b454c71d876
https://doi.org/10.1016/j.nmd.2020.10.006

المؤلفون: Manju A. Kurian, Dora Steel, Francesco Muntoni, Sniya Sudhakar, Richard H Scott, Lucinda Carr, Kshitij Mankad, Alison Male, Tarishi Nemani, Marios Kaliakatsos, Athina Ververi, Spas Getov, Mary M. Reilly, Pinki Munot, Catherine DeVile

المصدر: Journal of the Peripheral Nervous System. 25:117-124

مصطلحات موضوعية: Adult, Male, Nervous system, Pediatrics, medicine.medical_specialty, Sensory axonal neuropathy, Kinesins, Primary Dysautonomias, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, Central Nervous System Diseases, medicine, Humans, Spasticity, Child, Retrospective Studies, Dystonia, Spastic Paraplegia, Hereditary, business.industry, General Neuroscience, Infant, Peripheral Nervous System Diseases, Dysautonomia, medicine.disease, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Peripheral nervous system, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c80a3a29fdcf4ef73726251090fa2a5
https://doi.org/10.1111/jns.12368

المؤلفون: Federica Trucco, Deborah Ridout, Joana Domingos, Kate Maresh, Mary Chesshyre, Pinki Munot, Anna Sarkozy, Stephanie Robb, Rosaline Quinlivan, Mollie Riley, Colin Wallis, Elaine Chan, Francois Abel, Silvana De Lucia, Jean‐Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Valeria Ricotti, Adnan Manzur, Francesco Muntoni

المساهمون: Trucco, Federica, Ridout, Deborah, Domingos, Joana, Maresh, Kate, Chesshyre, Mary, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Wallis, Colin, Chan, Elaine, Abel, Francoi, De Lucia, Silvana, Hogrel, Jean‐yve, Niks, Erik H., de Groot, Imelda, Servais, Laurent, Straub, Volker, Ricotti, Valeria, Manzur, Adnan, Muntoni, Francesco

مصطلحات موضوعية: Duchenne muscular dystrophy, exon skipping, forced vital capacity, genotype, respiratory function

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34606104; info:eu-repo/semantics/altIdentifier/wos/WOS:000711484700001; volume:65; firstpage:67; lastpage:74; numberofpages:8; journal:MUSCLE & NERVE; https://hdl.handle.net/11567/1155339; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118321421

الاتاحة: https://hdl.handle.net/11567/1155339
https://doi.org/10.1002/mus.27427

المؤلفون: Daniel Natera‐de Benito, Julie A. Jurgens, Alison Yeung, Irina T. Zaharieva, Adnan Manzur, Stephanie P. DiTroia, Silvio Alessandro Di Gioia, Lynn Pais, Veronica Pini, Brenda J. Barry, Wai‐Man Chan, James E. Elder, John Christodoulou, Eleanor Hay, Eleina M. England, Pinki Munot, David G. Hunter, Lucy Feng, Danielle Ledoux, Anne O'Donnell‐Luria, Rahul Phadke, Elizabeth C. Engle, Anna Sarkozy, Francesco Muntoni

المصدر: Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Arthrogryposis, Phenotype, axon guidance, Face, Mutation, Genetics, Humans, distal arthrogryposis, Muscle, Skeletal, congenital cranial dysinnervation disorders, Genetics (clinical), Article, arthrogryposis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c20c4e99b5b3fede7ebd7ae05e16d1
https://europepmc.org/articles/PMC8960342/

المؤلفون: Maxwell Damian, Jennifer Spillane, Pinki Munot

المصدر: Emergencies in Neuromuscular Disorders ISBN: 9783030919313

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::df7818e926b2f4cd8059290ee52b3a55
https://doi.org/10.1007/978-3-030-91932-0_9

المؤلفون: Harriet Weststrate, Adnan manzur, Georgia Stimpson, Pinki Munot, Marion Main, Emily Johnson, Francois Abel, Elaine Chan, Lisa Edel, Natalie Smith, Giovanni Baranello, Francesco Muntoni, Mariacristina Scoto

المصدر: Digital posters.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4affc788ab3e3194350fe87e422c1514
https://doi.org/10.1136/archdischild-2021-gosh.77

المؤلفون: Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities

Relation: https://figshare.com/articles/figure/Image_3_Cardiac_Manifestations_of_Myotonic_Dystrophy_in_a_Pediatric_Cohort_pdf/20034815

الاتاحة: https://doi.org/10.3389/fped.2022.910660.s003
https://figshare.com/articles/figure/Image_3_Cardiac_Manifestations_of_Myotonic_Dystrophy_in_a_Pediatric_Cohort_pdf/20034815

المؤلفون: Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities

Relation: https://figshare.com/articles/dataset/Table_2_Cardiac_Manifestations_of_Myotonic_Dystrophy_in_a_Pediatric_Cohort_docx/20034821

الاتاحة: https://doi.org/10.3389/fped.2022.910660.s005
https://figshare.com/articles/dataset/Table_2_Cardiac_Manifestations_of_Myotonic_Dystrophy_in_a_Pediatric_Cohort_docx/20034821

المؤلفون: Jackie Palace, Sithara Ramdas, Ravi Knight, Pinki Munot, Sandeep Jayawant, Stephanie A. Robb, David Beeson, Angela Vincent, Pedro M. Rodríguez Cruz, Domizia Vecchio, Catherine DeVile, Matthew Pitt, Camilla Buckley, David Hilton-Jones

المصدر: Neuromuscular Disorders. 30:120-127

مصطلحات موضوعية: 0301 basic medicine, Drug, medicine.medical_specialty, media_common.quotation_subject, Serology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Repetitive nerve stimulation, Genetics (clinical), Survival analysis, media_common, biology, business.industry, medicine.disease, Myasthenia gravis, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Cohort, biology.protein, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery, Lipoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2b2922089841d6082b4aa3d036d808ba
https://doi.org/10.1016/j.nmd.2019.11.008

المؤلفون: Judith Cossins, Kathryn Selby, Eduardo de Paula Estephan, Pedro M. Rodríguez Cruz, Pinki Munot, Stephanie Robb, Jan Senderek, Francina Munell, David Beeson, Sandeep Jayawant, Michio Hirano, Sithara Ramdas, Aisling Carr, Alfons Macaya, Marina Dusl, Edmar Zanoteli, Christian de Goede, Siddharth Banka, Jacqueline Palace, Harry Fraser, Mohammad Yahya Vahidi Mehrjardi, Ana Töpf, Reza Maroofin, Abigail Sage, Hans Lochmüller, Wei Wei Liu, Umbertina Conti Reed, Adnan Y. Manzur, Ravi Knight, Monika Hofer, M. Gratacos, Gabriel Chow

المصدر: Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Rodríguez Cruz, P M, Cossins, J, de Paula Estephan, E, Munell, F, Selby, K, Hirano, M, Maroofin, R, Mehrjardi, M Y V, Chow, G, Carr, A, Manzur, A, Robb, S, Munot, P, Wei Liu, W, Banka, S, Fraser, H, De Goede, C, Zanoteli, E, Conti Reed, U, Sage, A, Gratacos, M, Macaya, A, Dusl, M, Senderek, J, Töpf, A, Hofer, M, Knight, R, Ramdas, S, Jayawant, S, Lochmüller, H, Palace, J & Beeson, D 2019, ' The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations ', Brain : a journal of neurology, vol. 142, no. 6, pp. 1547-1560 . https://doi.org/10.1093/brain/awz107

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Weakness, COL13A1, Adolescent, 3,4-diaminopyridine, Salbutamol, Neuromuscular transmission, Neuromuscular Junction, Muscle Proteins, Collagen Type XIII, Synaptic Transmission, Neuromuscular junction, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, congenital myasthenic syndromes, Humans, Respiratory function, Child, Muscle, Skeletal, Acetylcholine receptor, Myasthenic Syndromes, Congenital, business.industry, Homozygote, Muscle weakness, Original Articles, Congenital myasthenic syndrome, medicine.disease, Congenital myasthenic syndromes, Hypotonia, 3. Good health, synaptic basal lamina, Synaptic basal lamina, 030104 developmental biology, medicine.anatomical_structure, salbutamol, Mutation, Synapses, Cardiology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1410d8ce801488eb1b457d121ece19cb
http://europepmc.org/articles/PMC6752227