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المؤلفون: Davide Pareyson, Jean marc Burgunder, Michelangelo Mancuso, Josef Finsterer, Thomas Klopstock
المصدر: Mitochondrion 42, 1-10 (2018). doi:10.1016/j.mito.2017.10.003
مصطلحات موضوعية: Retinal Ganglion Cells, Pathology, medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Visual acuity, genetic structures, Mitochondrial disease, Respiratory chain, Vision Disorders, Biology, pathology [Retinal Ganglion Cells], Retinal ganglion, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Humans, 610 Medicine & health, Molecular Biology, medicine.diagnostic_test, pathology [Ophthalmoplegia, Chronic Progressive External], Disease Management, Optic Nerve, Cell Biology, Anatomy, medicine.disease, therapy [Ophthalmoplegia, Chronic Progressive External], eye diseases, etiology [Vision Disorders], diagnosis [Ophthalmoplegia, Chronic Progressive External], ddc:540, Mutation, 030221 ophthalmology & optometry, Optic nerve, Molecular Medicine, medicine.symptom, pathology [Optic Nerve], 030217 neurology & neurosurgery, Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935fa022a917be06aa7c8275559bbcdTest
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المؤلفون: Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington
المصدر: Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851 <http://dx.doi.org/10.1093/hmg/10.25.2851Test>
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Genetic Linkage, Blotting, Western, 610 Medicine & health, Polymerase Chain Reaction, Muscular Dystrophies, Muscle hypertrophy, Immunoenzyme Techniques, Fukuyama congenital muscular dystrophy, Genetics, medicine, Humans, Pentosyltransferases, Age of Onset, Muscular dystrophy, Child, Dystroglycans, Walker–Warburg syndrome, Molecular Biology, Genetics (clinical), DNA Primers, Membrane Glycoproteins, Fukutin-related protein, biology, Calpain, Infant, Proteins, General Medicine, Middle Aged, medicine.disease, Fukutin, Pedigree, Cytoskeletal Proteins, Phenotype, Haplotypes, Child, Preschool, Mutation, biology.protein, Congenital muscular dystrophy, Female, Laminin, Chromosomes, Human, Pair 19, Microsatellite Repeats, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74cTest
http://doc.rero.ch/record/297949/files/dde309.pdfTest -
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المؤلفون: John Dunlop, Nancy Van Hoylandt, Manfred Westphal, Amir Inamdar, David Nutt, Jean Marc Burgunder, Philip Gorwood, Wolfgang Wick, Martin J. van den Bent, Michael Weller, Stefan M. Pfister, Roland Pochet, Giovanni Esposito
المساهمون: University of Zurich
المصدر: Public health genomics. 19(3)
مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, medicine.medical_specialty, 2716 Genetics (clinical), Drug Industry, medicine.medical_treatment, 610 Medicine & health, Disease, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Health care, medicine, Humans, Precision Medicine, Intensive care medicine, Psychiatry, Genetics (clinical), Depression (differential diagnoses), Brain Diseases, business.industry, Public Health, Environmental and Occupational Health, 2739 Public Health, Environmental and Occupational Health, medicine.disease, 10040 Clinic for Neurology, 030104 developmental biology, Early Diagnosis, Drug development, Schizophrenia, Mutation, Identification (biology), Neurosurgery, Patient Participation, business, 030217 neurology & neurosurgery
وصف الملف: Gene Tailored Treatments For Brain Disorders - EBC REV - 04032016.pdf - application/pdf; 446338.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f9c36631a210a11ce71da48badcb3cfTest
https://pubmed.ncbi.nlm.nih.gov/27238144Test