المؤلفون: Francesco Muntoni, Thomas R. Pieber, Michael A. Gonzalez, Mariacristina Scoto, Michaela Auer-Grumbach, Kathryn N. North, Majid Hafezparast, Fiorella Speziani, Monkol Lek, Daniel G. MacArthur, Linda Greensmith, Alexander M. Rossor, Janet E. Sowden, A. Reghan Foley, Rebecca Schüle, E. Cottenie, Manoj P. Menezes, Tim M. Strom, David N. Herrmann, Henry Houlden, Nigel F. Clarke, Emily C. Oates, Mary M. Reilly, Matthew E. Hurles, Stephan Züchner, Gyula Acsadi

المصدر: Am. J. Hum. Genet. 92, 965-973 (2013)

مصطلحات موضوعية: Adult, Cytoplasmic Dyneins, Male, Neurite, Genetic Linkage, Hereditary spastic paraplegia, Mutation, Missense, macromolecular substances, Biology, Polymorphism, Single Nucleotide, Muscular Atrophy, Spinal, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Anterior Horn Cell, Report, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), Aged, Genes, Dominant, 030304 developmental biology, Paraplegia, 0303 health sciences, Upper motor neuron, Spinal muscular atrophy, Middle Aged, Motor neuron, medicine.disease, BICD2, Pedigree, HEK293 Cells, medicine.anatomical_structure, Haplotypes, Child, Preschool, Female, Carrier Proteins, Microtubule-Associated Proteins, Neuroscience, 030217 neurology & neurosurgery, Genome-Wide Association Study, Protein Binding

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48ecce3b677b2c12f4f209e63148143
https://doi.org/10.1016/j.ajhg.2013.04.018

المؤلفون: Stephan Züchner, Michael G. Hanna, E. Cottenie, Alejandro Horga, Jeffrey S. Prince, Julia E. Dallman, Adriana P. Rebelo, Michaela Auer-Grumbach, Henry Houlden, Matilde Laura, Kasey Markel, Milena F. Pinto, Janice L. Holton, Alexander J. Abrams, Michael A. Gonzalez, Cathy E. Woodward, Mary M. Reilly, Dana M. Bis, Avencia Sanchez-Mejias, Mary G. Sweeney, Julian Blake, Elena Buglo

المصدر: American journal of human genetics. 98(4)

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Neurofilament, Molecular Sequence Data, Intermediate Filaments, Protein aggregation, Article, Frameshift mutation, Cell Line, 03 medical and health sciences, Mice, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Frameshift Mutation, Zebrafish, Gene, Peptide sequence, 3' Untranslated Regions, Genetics (clinical), Motor Neurons, biology, Three prime untranslated region, Amyotrophic Lateral Sclerosis, biology.organism_classification, Axons, Cell biology, Pedigree, 030104 developmental biology, Mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb0030a3a4bab8c7ed0fdb3fe97315e
https://pubmed.ncbi.nlm.nih.gov/27040688

المؤلفون: Maria Salvado, Liliana Villarreal-Pérez, Pedro J. Tomaselli, Henry Houlden, Josep Gamez, E. Cottenie, Alejandro Horga, Mary M. Reilly, Ricard Rojas-García, Celedonio Márquez-Infante

المصدر: JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: Axonal neuropathy, Neuromyotonia, Inherited neuropathy, Nerve Tissue Proteins, Charcot-Marie-Tooth disease, Inherited neuropathies, Mutation Rate, Medicine, Humans, Gene, Genetics, Direct sequencing, business.industry, HINT1, Myotonia, medicine.disease, United Kingdom, Pedigree, Neurology, Spain, Cohort, Neurology (clinical), business, Hereditary Sensory and Motor Neuropathy, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1a0e17a1286bade2dbd8956e38f0853
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8438

المؤلفون: Sinéad M. Murphy, Michael P. Lunn, Carol Crowe, Rupert Page, Iain P. Hargreaves, Frances Flinter, Mary G. Sweeney, Ese E. Mudanohwo, Shamima Rahman, Annapurna Chalasani, Cathy E. Woodward, Julian Blake, Janice L. Holton, Michael Champion, Cheryl Longman, Stephanie A. Robb, Michael G. Hanna, Robert D S Pitceathly, E. Cottenie, Simon Heales, Michael Rose, Henry Houlden, Mary M. Reilly, Jacqueline Palace, John M. Land

المصدر: Neurology. 79(11)

مصطلحات موضوعية: Proband, Adult, Male, Mitochondrial DNA, Adolescent, Genotype, Mitochondrial disease, Genetic counseling, Biology, medicine.disease_cause, DNA, Mitochondrial, Charcot-Marie-Tooth Disease, medicine, Humans, Child, Genetics, Aged, 80 and over, Mutation, Articles, Middle Aged, Mitochondrial Proton-Translocating ATPases, medicine.disease, Pedigree, Peripheral neuropathy, MT-ATP6, biology.protein, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d95aa3d570ca6fc541358d143a44523f
http://ora.ox.ac.uk/objects/uuid:bebca52f-5029-45b4-a3bc-39fe22597e02

المؤلفون: Henry Houlden, Zane Jaunmuktane, Julian Blake, Sebastian Brandner, Manoj P. Menezes, E. Cottenie, Alexander M. Rossor, Mary M. Reilly, David Dick, Janice R. Anderson, Jasper M. Morrow, Tarek A. Yousry

المصدر: Neuromuscular disorders : NMD. 23(5)

مصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Chronic denervation, Chronic inflammatory demyelinating polyneuropathy, Disease, Compound heterozygosity, Diagnosis, Differential, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 4J, Genotype, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), business.industry, Polyradiculoneuropathy, medicine.disease, Axons, Neurology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e978752b22e5f7faf4c5a7451fc854b
https://pubmed.ncbi.nlm.nih.gov/23489662

المؤلفون: Y-T Liu, Amelie Pandraud, H Houlden, Michael G. Hanna, Mary M. Reilly, E. Cottenie, Matilde Laura, Alexander M. Rossor, R.D.S. Pitceathly, Alejandro Horga

المصدر: Neuromuscular Disorders. 24:S22

مصطلحات موضوعية: Inherited neuropathies, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Sensory system, In patient, Neurology (clinical), Bioinformatics, business, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::060cae9288d9907eed5b57d1dba591d4
https://doi.org/10.1016/s0960-8966(14)70072-0

المؤلفون: Annapurna Chalasani, Iain P. Hargreaves, Michael G. Hanna, E. Cottenie, S Rahman, H Houlden, Ese E. Mudanohwo, Mary M. Reilly, Sinéad M. Murphy, J.L. Holton, Cathy E. Woodward, S. J. R. Heales, R.D.S. Pitceathly, Mary G. Sweeney, M.P. Lunn

المصدر: Neuromuscular Disorders. 22:S20

مصطلحات موضوعية: Tooth disease, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Physiology, Medicine, Neurology (clinical), Theology, business, Genetics (clinical), Clinical neurology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8e4c521741fbaa4f239fbc2dcf8d83ae
https://doi.org/10.1016/s0960-8966(12)70058-5

المؤلفون: Matilde Laura, Julian Blake, David Dick, Mary M. Reilly, Michael G. Hanna, E. Cottenie, H Houlden

المصدر: Neuromuscular Disorders. 22:S18

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Physiology, In patient, Neurology (clinical), business, Genetic analysis, Genetics (clinical), Clinical neurology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::be6ecdf4632c1287ce35733e5bb90edd
https://doi.org/10.1016/s0960-8966(12)70049-4