المؤلفون: J Van Reeuwijk, M Janssen, C Van Den Elzen, D Beltran-valero De Bernabé, P Sabatelli, L Merlini, M Boon, H Scheffer, M Brockington, F Muntoni, M A Huynen, A Verrips, C A Walsh, P G Barth, H G Brunner, H Van Bokhoven

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.walshlab.org/pdf/POMT2_mutations_cause_alphadystroglycan.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.598.129; http://www.walshlab.org/pdf/POMT2_mutations_cause_alphadystroglycan.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.598.129
http://www.walshlab.org/pdf/POMT2_mutations_cause_alphadystroglycan.pdf

المؤلفون: Giora Proskurowski, Wayne C. Shanks, K. L. Von Damm, K. M. O'Grady, Alastair G C Graham, Eric J. Olson, Marvin D. Lilley, A.M. Bray, M. Brockington

المصدر: Earth and Planetary Science Letters. 206:365-378

مصطلحات موضوعية: chemistry.chemical_classification, geography, geography.geographical_feature_category, Sulfide, Critical phenomena, Mineralogy, Mid-ocean ridge, Overprinting, Geophysics, chemistry, Space and Planetary Science, Geochemistry and Petrology, Critical point (thermodynamics), Oceanic crust, Earth and Planetary Sciences (miscellaneous), Seawater, Petrology, Geology, Hydrothermal vent

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f532d98c95d01415385e7cf9f8c976e2
https://doi.org/10.1016/s0012-821x(02)01081-6

المؤلفون: M. Brockington, B.R.F Lecky, A. E. Harding, J. A. Morgan-Hughes, R.S Howard, R.M Chalmers

المصدر: Journal of the Neurological Sciences. 143:41-45

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mitochondrial DNA, Biology, DNA, Mitochondrial, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Retinitis pigmentosa, medicine, Humans, Aged, Family Health, Nerve biopsy, medicine.diagnostic_test, Parkinsonism, Multiple mitochondrial DNA deletions, Middle Aged, medicine.disease, Pedigree, Micrographia, Blotting, Southern, Peripheral neuropathy, nervous system, Neurology, Female, Neurology (clinical), medicine.symptom, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fbd909d6f52f0be5e44e9ead55cf5f9
https://doi.org/10.1016/s0022-510x(96)00032-9

المؤلفون: JM Cooper, Hammans, Anthony H.V. Schapira, J. A. Morgan-Hughes, John B. Clark, Mary G. Sweeney, A. E. Harding, M. Brockington

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1271(1):135-140

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ataxia, RNA, Transfer, Leu, Adolescent, Genotype, Biopsy, Respiratory chain, Biology, Mitochondrion, MELAS syndrome, DNA, Mitochondrial, Electron Transport Complex IV, 03 medical and health sciences, Electron Transport Complex III, 0302 clinical medicine, Mitochondrial Encephalomyopathies, MELAS phenotype, medicine, MELAS Syndrome, NAD(P)H Dehydrogenase (Quinone), Humans, Point Mutation, Age of Onset, Child, Muscle, Skeletal, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, Middle Aged, medicine.disease, Cytochrome b Group, Heteroplasmy, 3. Good health, mtDNA disease, Phenotype, Molecular Medicine, Female, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80efeaa0a069c9ca18f5398107c10da4

المؤلفون: M. Brockington, A. Rees, J. C. Alcolado, R. Morgan, Mary G. Sweeney, A. Majid, A. H. Barnett, A. E. Harding

المصدر: Diabetologia. 37:372-376

مصطلحات موضوعية: Mitochondrial encephalomyopathy, Genetics, medicine.medical_specialty, Non-Mendelian inheritance, Mitochondrial DNA, Endocrinology, Diabetes and Metabolism, Biology, Mitochondrion, medicine.disease, MELAS syndrome, Impaired glucose tolerance, Endocrinology, Mitochondrial myopathy, Diabetes mellitus, Internal medicine, Internal Medicine, medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c7b4084a69e485348af1529ee1d74373
https://doi.org/10.1007/bf00408473

المؤلفون: Gary M. Brockington, Joseph Zebede, Natesa G. Pandian

المصدر: Cardiology Clinics. 8:645-662

مصطلحات موضوعية: General Medicine, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36f719b4b3a2ddf940e6d15542419375
https://doi.org/10.1016/s0733-8651(18)30337-0

المؤلفون: M, Brockington, F, Muntoni

المصدر: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 24(3)

مصطلحات موضوعية: Muscular Dystrophy, Duchenne, Glycosylation, Glycosyltransferases, Humans, Dystroglycans, Muscle, Skeletal, T-Lymphocytes, Cytotoxic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2d5d1ffabd3dafaa4f7a24fb4529c27f
https://pubmed.ncbi.nlm.nih.gov/16629056

المؤلفون: J. VAN REEUWIJK, M. JANSSEN, C. VAN DEN ELZEN, D. BELTRAN-VALERO DE BERNABE, P. SABATELLI, L. MERLINI, M. BOON, H. SCHEFFER, M. BROCKINGTON, F. MUNTONI, M.A. HUYNEN, A. VERRIPS, C.A. WALSH, P.G. BARTH, H.G. BRUNNER, H. VAN BOKHOVEN

المصدر: 42 (2005): 907–912.
info:cnr-pdr/source/autori:J. VAN REEUWIJK, M. JANSSEN, C. VAN DEN ELZEN, D. BELTRAN-VALERO DE BERNABE, P. SABATELLI, L. MERLINI, M. BOON, H. SCHEFFER, M. BROCKINGTON, F. MUNTONI, M.A. HUYNEN, A. VERRIPS, C.A. WALSH, P.G. BARTH, H.G. BRUNNER, H.G. BRUNNER, H. VAN BOKHOVEN,/titolo:POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome,/doi:/rivista:/anno:2005/pagina_da:907/pagina_a:912/intervallo_pagine:907–912/volume:42

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::b8198ebbb523e63552c4c83bddb72288
http://www.cnr.it/prodotto/i/5272

المؤلفون: P. SABATELLI, M. COLUMBARO, L. MERLINI, S. SQUARZONI, F. MUNTONI, M. BROCKINGTON, N.M. MERLINI

المصدر: 4th AIM Conference, Taormina, 2004
info:cnr-pdr/source/autori:P. SABATELLI, M. COLUMBARO, L. MERLINI, S. SQUARZONI, F. MUNTONI, M. BROCKINGTON, N.M. MERLINI,/congresso_nome:4th AIM Conference/congresso_luogo:Taormina/congresso_data:2004/anno:2004/pagina_da:/pagina_a:/intervallo_pagine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::28f92aac9653cb5dd53fa0a5e3445164
https://publications.cnr.it/doc/99139

المؤلفون: M. Brockington, S.R. Hammans, A. E. Harding, J. A. Morgan-Hughes, Mary G. Sweeney

المصدر: The Lancet. 337:1311-1313

مصطلحات موضوعية: Adult, Mitochondrial DNA, Pathology, medicine.medical_specialty, Adolescent, Encephalopathy, Epilepsies, Myoclonic, Biology, medicine.disease_cause, DNA, Mitochondrial, medicine, Humans, Child, Brain Diseases, Mutation, Muscle biopsy, medicine.diagnostic_test, Muscles, Point mutation, Syndrome, General Medicine, medicine.disease, Mitochondria, Muscle, Cerebrovascular Disorders, Child, Preschool, Lactic acidosis, Myoclonic epilepsy, Acidosis, Lactic, Ataxia, medicine.symptom, Myoclonus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0442e4b8e00fca2da9ee9382cfc20d7
https://doi.org/10.1016/0140-6736(91)92981-7

المؤلفون: Terrie A. Harshaw, Renee M. Brockington Bouey, Libby Balter Blume

المصدر: Michigan Family Review: vol. 02, no. 2

مصطلحات موضوعية: Essay, children, depression, homeless, psychopathology, urban, women

Relation: (dlps) 4919087.0002.205; http://hdl.handle.net/2027/spo.4919087.0002.205; (doi) http://dx.doi.org/10.3998/mfr.4919087.0002.205; (issn) 1558-7258; (aleph) 4919087

الاتاحة: http://hdl.handle.net/2027/spo.4919087.0002.205

المؤلفون: G. S. Sellick, Æ C. Longman, Æ M. Brockington

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://curecmd.org/wp-content/uploads/2008/09/houlston-4p163.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.658.8551; http://curecmd.org/wp-content/uploads/2008/09/houlston-4p163.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.658.8551
http://curecmd.org/wp-content/uploads/2008/09/houlston-4p163.pdf

المؤلفون: A. E. Harding, M. Brockington, J. A. Morgan-Hughes, Mary G. Sweeney, N. Alsanjari, Francesco Scaravilli

المصدر: Journal of the neurological sciences. 131(1)

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Cerebellum, Adolescent, Spleen, Kearns-Sayre Syndrome, Biology, DNA, Mitochondrial, Basal Ganglia, Kearns–Sayre syndrome, chemistry.chemical_compound, Gene duplication, medicine, Humans, Genetics, Brain Chemistry, Skeletal muscle, Brain, medicine.disease, Blot, Blotting, Southern, medicine.anatomical_structure, Neurology, chemistry, Spinal Cord, Multigene Family, Female, Neurology (clinical), DNA, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e95cf5859f7bc186f44a06079e02bd2
https://pubmed.ncbi.nlm.nih.gov/7561952

المؤلفون: M. Brockington, C. E. Woodward, Owen Smith, Ian Hann

المصدر: British journal of haematology. 90(2)

مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial DNA, Pancreatic disease, Biology, Neutropenia, DNA, Mitochondrial, Sideroblastic anemia, Internal medicine, medicine, Humans, Bone Marrow Diseases, Pearson syndrome, Infant, Pancreatic Diseases, Hematology, Gene rearrangement, Syndrome, medicine.disease, Anemia, Sideroblastic, Blotting, Southern, Endocrinology, medicine.anatomical_structure, Multigene Family, Female, Bone marrow, Pancreas, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4720b6adc464027a7d2f66c60d2ca01f
https://pubmed.ncbi.nlm.nih.gov/7794775

المؤلفون: M G, Sweeney, S, Bundey, M, Brockington, K R, Poulton, J B, Winer, A E, Harding

المصدر: The Quarterly journal of medicine. 86(11)

مصطلحات موضوعية: Adult, Male, Death, Sudden, RNA, Transfer, Leu, Mitochondrial Encephalomyopathies, Humans, Point Mutation, Female, Middle Aged, DNA, Mitochondrial, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c3126ca0e62b7b2cd436764ecdb50a41
https://pubmed.ncbi.nlm.nih.gov/8265770

المؤلفون: M G, Sweeney, M, Brockington, M J, Weston, J A, Morgan-Hughes, A E, Harding

المصدر: The Quarterly journal of medicine. 86(7)

مصطلحات موضوعية: Adult, Electrophoresis, Agar Gel, Heart Failure, Male, RNA, Transfer, Leu, Muscular Diseases, Mutation, Humans, Female, DNA, Mitochondrial, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5ef1f769235ccbf7357e3a705eab763f
https://pubmed.ncbi.nlm.nih.gov/8210299

المؤلفون: M G, Sweeney, M B, Davis, A, Lashwood, M, Brockington, A, Toscano, A E, Harding

المصدر: American journal of human genetics. 51(4)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Polymorphism, Genetic, X Chromosome, genetic structures, Base Sequence, Genetic Linkage, Molecular Sequence Data, Vision Disorders, Chromosome Mapping, DNA, DNA, Mitochondrial, Polymerase Chain Reaction, eye diseases, Pedigree, England, Italy, Oligodeoxyribonucleotides, Optic Atrophies, Hereditary, Mutation, Humans, Female, Genetic Predisposition to Disease, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::175a21773fa1ea56a39543c3c35025ac
https://pubmed.ncbi.nlm.nih.gov/1415219

المؤلفون: G M, Brockington, J, Zebede, N G, Pandian

المصدر: Cardiology clinics. 8(4)

مصطلحات موضوعية: Cardiac Catheterization, Pericarditis, Constrictive, Humans

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::29c1e5bfae9ef67c08da7105c221db16
https://pubmed.ncbi.nlm.nih.gov/2249219

المؤلفون: Libby Balter Blume, Renee M. Brockington Bouey, Terrie A. Harshaw

المصدر: Michigan Family Review. :57

مصطلحات موضوعية: Halfway Houses, education.field_of_study, Economic growth, Poverty, media_common.quotation_subject, Population, Metropolitan area, Underemployment, Geography, Unemployment, Emergency Shelter, Residence, education, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1c9f5e572835c92bc84a7851391ea6da
https://doi.org/10.3998/mfr.4919087.0002.205

المؤلفون: Terrie A. Harshaw, Terrie A. Harshaw, Renee M. Brockington Bouey, Libby Balter Blume

المصدر: Michigan Family Review: vol. 02, no. 2

مصطلحات الفهرس: Essay, children, depression, homeless, psychopathology, urban, women, text

URL: http://hdl.handle.net/2027/spo.4919087.0002.205