المؤلفون: Luca Bartesaghi, Yiqiao Wang, Paula Fontanet, Simone Wanderoy, Finja Berger, Haohao Wu, Natalia Akkuratova, Filipa Bouçanova, Jean-Jacques Médard, Charles Petitpré, Mark A. Landy, Ming-Dong Zhang, Philip Harrer, Claudia Stendel, Rolf Stucka, Marina Dusl, Maria Eleni Kastriti, Laura Croci, Helen C. Lai, Gian Giacomo Consalez, Alexandre Pattyn, Patrik Ernfors, Jan Senderek, Igor Adameyko, Francois Lallemend, Saida Hadjab, Roman Chrast

المصدر: Cell Reports, Vol 26, Iss 13, Pp 3484-3492.e4 (2019)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124719302840; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/8d3c2ac2ef91434cbeb5846bfc9c9928

المؤلفون: Claudia Stendel, Maria Cristina D’Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock, Mauro Pessia

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 11, p 3810 (2020)

مصطلحات موضوعية: absence epilepsy, cerebellar ataxia, CACNA1A mutation, next-generation sequencing, P/Q-type calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/21/11/3810; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/3ed695f96ec240a3a1ec491ea6e3bc14

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

المؤلفون: Angela Abicht, Alfons Macaya, Marina Dusl, M. Gratacos, Francina Munell, Teresa Moreno, Tim M. Strom, Jan Senderek, Hanns Lochmüller

المصدر: Journal of Neurology. 266:1107-1112

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, medicine.drug_class, DNA Mutational Analysis, Generalized muscle weakness, Neuromuscular transmission, Collagen Type XIII, Neuromuscular junction, Ophthalmoparesis, Consanguinity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Humans, Medicine, 030212 general & internal medicine, Receptor, trkA, Child, Family Health, Myasthenic Syndromes, Congenital, Respiratory distress, business.industry, Congenital myasthenic syndrome, medicine.disease, medicine.anatomical_structure, Neurology, Acetylcholinesterase inhibitor, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b19a6e74ea486d55533bcdc32c0a3e99
https://doi.org/10.1007/s00415-019-09239-7

المؤلفون: Marina Dusl, Thomas Klopstock, Silvia Belia, Manuela Wiessner, Peter Bauer, Jan Senderek, Claudia Stendel, Marta Cenciarini, Ehsan Nematian-Ardestani, Mauro Pessia, Maria Cristina D'Adamo

المصدر: International Journal of Molecular Sciences
Volume 21
Issue 11
International journal of molecular sciences 21(11), 3810-(2020). doi:10.3390/ijms21113810
International Journal of Molecular Sciences, Vol 21, Iss 3810, p 3810 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, CACNA1A mutation, Xenopus, medicine.disease_cause, pathology [Epilepsy], lcsh:Chemistry, Epilepsy, 0302 clinical medicine, Loss of Function Mutation, Spinocerebellar ataxia type 6, lcsh:QH301-705.5, Cells, Cultured, Spectroscopy, Familial hemiplegic migraine, Genetics, Mutation, Splice site mutation, P/Q-type calcium channel, genetics [Cerebellar Ataxia], metabolism [Calcium Channels], General Medicine, Middle Aged, Computer Science Applications, Phenotype, absence epilepsy, genetics [Calcium Channels], ddc:540, complications [Epilepsy], medicine.symptom, complications [Cerebellar Ataxia], Ataxia, RNA Splicing, genetics [Epilepsy], Biology, pathology [Cerebellar Ataxia], Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, medicine, Animals, Humans, Physical and Theoretical Chemistry, Molecular Biology, Cerebellar ataxia, Calcium channel, Organic Chemistry, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, next-generation sequencing, Calcium Channels, cerebellar ataxia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82d0938c056a8dbf269380b5f52c91c5

المؤلفون: Angela Abicht, Marina Dusl, Teresinha Evangelista, Grace McMacken, Hanns Lochmüller, Roger G. Whittaker

المصدر: Journal of Neurology

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Neurology, Apnea, Respiratory arrest, Neural Conduction, Neuromuscular transmission, Neuromuscular junction, Muscle Proteins, Receptors, Nicotinic, 0302 clinical medicine, Genotype, Medicine, Receptors, Cholinergic, Longitudinal Studies, Child, Creatine Kinase, health care economics and organizations, Neuroradiology, Original Communication, Symporters, Neuromuscular disease, Congenital myasthenic syndrome, 3. Good health, RAPSN, Child, Preschool, Acetylcholinesterase, Female, Collagen, medicine.symptom, Respiratory Insufficiency, Adult, medicine.medical_specialty, Adolescent, Neurophysiology, Myosins, Antibodies, Choline O-Acetyltransferase, 03 medical and health sciences, Myasthenia Gravis, Humans, Retrospective Studies, business.industry, Infant, medicine.disease, 030104 developmental biology, Mutation, Cholinesterase Inhibitors, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::294e3c42f746ab5fb6dc5a5e78beb438
https://doi.org/10.1007/s00415-017-8689-3

المؤلفون: Ming-Dong Zhang, Helen C. Lai, Francois Lallemend, Roman Chrast, Igor Adameyko, Jan Senderek, Marina Dusl, Luca Bartesaghi, Philip Harrer, Paula Fontanet, Claudia Stendel, Charles Petitpré, Alexandre Pattyn, Haohao Wu, Filipa Bouçanova, Maria Eleni Kastriti, Jean-Jacques Médard, Finja Berger, Mark A. Landy, Yiqiao Wang, Patrik Ernfors, Rolf Stucka, Natalia Akkuratova, Saida Hadjab, Laura Croci, Simone Wanderoy, G. Giacomo Consalez

المساهمون: Bartesaghi, Luca, Wang, Yiqiao, Fontanet, Paula, Wanderoy, Simone, Berger, Finja, Wu, Haohao, Akkuratova, Natalia, Bouçanova, Filipa, Médard, Jean-Jacque, Petitpré, Charle, Landy, Mark A., Zhang, Ming-Dong, Harrer, Philip, Stendel, Claudia, Stucka, Rolf, Dusl, Marina, Eleni Kastriti, Maria, Croci, Laura, Lai, Helen C., Consalez, GIANGIACOMO GERMANO, Pattyn, Alexandre, Ernfors, Patrik, Senderek, Jan, Adameyko, Igor, Lallemend, Francoi, Hadjab, Saida, Chrast, Roman

المصدر: Cell Reports
Cell Reports, Vol 26, Iss 13, Pp 3484-3492.e4 (2019)
Cell reports

مصطلحات موضوعية: 0301 basic medicine, Male, Nociception, Lineage (genetic), Neurogenesis, Nerve Tissue Proteins, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, medicine, Animals, Cell Lineage, Progenitor cell, Transcription factor, lcsh:QH301-705.5, Neurons, Gene Expression Profiling, Neural crest, Nociceptors, Immunohistochemistry, 030104 developmental biology, medicine.anatomical_structure, nervous system, lcsh:Biology (General), NEUROD1, ISL1, Female, Neuron, Carrier Proteins, Neuroscience, Chickens, 030217 neurology & neurosurgery, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b41939ec1a89e6600f3b1275a0d21617

المؤلفون: A. Santana-Artiles, Angela Abicht, M. Bestué, P.M. Rodriguez Cruz, Grace McMacken, Ana Camacho, Juliane S. Müller, Juan J. Vílchez, Andrés Nascimento, Lidia Gonzalez-Quereda, J. Domínguez-Carral, Marina Dusl, Esther Jiménez, Pia Gallano, A. Paipa Merchan, Teresinha Evangelista, Yoshiteru Azuma, Ana Töpf, Hanns Lochmüller, Carlos Ortez, Montse Olivé, O. García-Campos, Jan Senderek, N. Muelas, J. Diaz-Manera, R. Dominguez-Rubio, D. Natera-de Benito, David Beeson, Jaume Colomer, A. García-Ribes, María Concepción Miranda-Herrero

المصدر: NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Slow-channel syndrome, Adolescent, Neuromuscular transmission, GMPPB, Gene mutation, COLQ, Congenital myasthenic syndrome, Young Adult, 03 medical and health sciences, 0302 clinical medicine, DOK7, medicine, Humans, CHRNE, Gene, Genetics (clinical), health care economics and organizations, Myasthenic Syndromes, Congenital, Genetics, biology, RAPSN, Middle Aged, medicine.disease, Phenotype, 3. Good health, Genetic mutations, 030104 developmental biology, GFPT1, Neurology, Spain, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b967c96669f268f9a18032854a15ab37
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13108

المؤلفون: Rolf Stucka, Constanze Gallenmüller, Astrid Blaschek, Angela Abicht, Hanns Lochmüller, Angela Huebner, Marina Dusl, Wolfgang Müller-Felber, Velina Guergueltcheva, Maja von der Hagen, Juliane S. Müller

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: Male, Weakness, CMS, congenital myasthenic syndrome, Neuromuscular transmission, Mutation, Missense, Biology, Bioinformatics, AChR, acetylcholine receptor, Article, Exon, medicine, Missense mutation, Humans, Albuterol, Receptors, Cholinergic, Allele, Genetics (clinical), health care economics and organizations, Alleles, AChE, acetylcholine esterase, Sequence Deletion, Genetics, Myasthenic Syndromes, Congenital, CMAP, compound muscle action potential, Genetic heterogeneity, MUSK-related CMS, Salbutamol treatment, Siblings, Receptor Protein-Tyrosine Kinases, Congenital myasthenic syndrome, medicine.disease, Congenital myasthenic syndromes, 3. Good health, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Esterase inhibitor, CK, creatine kinase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44617c13b35b24caddf4fa213329cc80
http://europepmc.org/articles/PMC4018985

المؤلفون: David Beeson, Hanns Lochmüller, Doriette Soler, Ariana Kariminejad, J. P. Sieb, Janbernd Kirschner, Beate Schlotter, Yalda Nilipour, Andoni Urtizberea, Nuria Muelas, Amina Chaouch, Ortrud K. Steinlein, Jaume Colomer, Bita Bozorgmehr, Jacqueline Palace, Carmelo Rodolico, Volker Straub, Juan J. Vílchez, Jan Senderek, Ralf Herrmann, Anders Oldfors, Hossein Najmabadi, Francesco Muntoni, Kate Bushby, Angela Abicht, Christopher Lindbergh, Shahriar Nafissi, Susan Maxwell, Benedikt Schoser, Andrés Nascimento, Marina Dusl, Cecilia Jimenez Mallebrera, Velina Guergueltcheva, Thomas Voit, Michael G. Hanna, Abdolhamid Najafi, Juliane S. Müller

المصدر: JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Weakness, Proximal muscle weakness, Positional cloning, Adolescent, DNA Mutational Analysis, Medizin, Neuromuscular transmission, Context (language use), Severity of Illness Index, Young Adult, Medicine, Humans, Child, health care economics and organizations, Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing), Myasthenic Syndromes, Congenital, Muscle biopsy, biology, medicine.diagnostic_test, business.industry, Congenital myasthenic syndromes, Dok-7, GFPT1, Limb-girdle myasthenia, Tubular aggregates, Congenital myasthenic syndrome, Middle Aged, medicine.disease, Neurology, Mutation, biology.protein, Neurology (clinical), medicine.symptom, business, Dok-7, Myopathies, Structural, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a3274d67bf5c896d7ba073ea68e953
https://ora.ox.ac.uk/objects/uuid:48ea5a13-7ddc-47a6-aff1-77d9f342afe5