المؤلفون: Sharique Ansari, Mary Kay Koenig

المصدر: Clinical Case Reports, Vol 12, Iss 12, Pp n/a-n/a (2024)

مصطلحات موضوعية: Cardiolipin, CPEO, Elamipretide, mitochondrial disease, NARP syndrome, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/941529823dde4b63a1793ac4759af5e8

المؤلفون: O. V. Khlebnikova, I. V. Sharkova

المصدر: Российский офтальмологический журнал, Vol 12, Iss 1, Pp 97-101 (2019)

مصطلحات موضوعية: narp syndrome, retinal abiotrophy, mitochondrial diseases, etiologic diagnosis, prognosis, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://roj.igb.ru/jour/article/view/230; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760

URL الوصول: https://doaj.org/article/de5a464a6b5d4eb1825e06660a6b7015

المؤلفون: Blăniţă, D.N., Ţurcan, D., Garaeva, S.N., Гараева, С.Н., Postolati, G.V., Постолати, Г.В., Sacară, V.C., Sakara, V., Wevers, R., Rodenburg, R., Uşurelu, N.M.

المصدر: Buletin de Perinatologie 90 (1) 96-101

مصطلحات موضوعية: sindromul NARP, afectare multisistemică, maladie mitocondrială, NARP syndrome, multisystemic affectation, mitochondrial disease, синдром NARP, мультисистемное повреждение, митохондриальное заболевания

وصف الملف: application/pdf

Relation: https://ibn.idsi.md/vizualizare_articol/137700; urn:issn:18105289

الاتاحة: https://ibn.idsi.md/vizualizare_articol/137700

المؤلفون: E. V. Shishkina, M. V. Barkhatov, E. V. Borisova, S. O. Falalaleeva, N. A. Shchekaleva, N. Yu. Makarevskaya, M. A. Chubko

المصدر: Русский журнал детской неврологии, Vol 11, Iss 3, Pp 57-61 (2016)

مصطلحات موضوعية: developmental delay, mitochondrial diseases, narp syndrome, neuropathy syndrome, ataxia, retinitis pigmentosa syndrome, clinical manifestations, diagnosis, treatment, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://rjdn.abvpress.ru/jour/article/view/168; https://doaj.org/toc/2073-8803; https://doaj.org/toc/2412-9178

URL الوصول: https://doaj.org/article/d7fba00f9e894b5aa66547ee18ddad81

المؤلفون: Caroline Demily, Charlyne Duwime, Alice Poisson, Nathalie Boddaert, Arnold Munnich

المصدر: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 20-22 (2017)

مصطلحات موضوعية: NARP syndrome, m.8993T>C mutation, Clozapine, Myoclonus, Myoclonic seizures, Psychosis, Mitochondrial disease, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426916301355; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/1efc36ebc86f4dbe8f7dc141ec5db286

المؤلفون: Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gérard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

المساهمون: Université libre de Bruxelles (ULB), Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Università degli studi di Torino = University of Turin (UNITO), IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, Institute for Maternal and Child Health - IRCCS “Burlo Garofolo” Trieste, Service de Génétique Clinique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Queen Elizabeth University Hospital (Glasgow), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Università degli Studi di Siena = University of Siena (UNISI), Laboratoire Histologie Embryologie Cytogénétique CHU Necker, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sahlgrenska University Hospital Gothenburg, Université Catholique de Louvain = Catholic University of Louvain (UCL), Universiteit Gent = Ghent University (UGENT), Hôpital Erasme Bruxelles (ULB), Faculté de Médecine Bruxelles (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)

المصدر: ISSN: 1756-994X ; Genome Medicine ; https://normandie-univ.hal.science/hal-02268433 ; Genome Medicine, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩.

مصطلحات موضوعية: NARP syndrome, DLG2, Mitochondrial disease, Complex V deficiency, Neurodevelopmental disorders, Promoters, Intellectual disability, Next generation sequencing, Functional genomics, ATP6 deletion, primary microcephaly, ASPM, brain development, centrosome, brain imaging, MCPH, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

Relation: info:eu-repo/semantics/altIdentifier/pmid/28724449; hal-02268433; https://normandie-univ.hal.science/hal-02268433; https://normandie-univ.hal.science/hal-02268433/document; https://normandie-univ.hal.science/hal-02268433/file/s13073-017-0452-y.pdf; PUBMED: 28724449

الاتاحة: https://normandie-univ.hal.science/hal-02268433
https://normandie-univ.hal.science/hal-02268433/document
https://normandie-univ.hal.science/hal-02268433/file/s13073-017-0452-y.pdf
https://doi.org/10.1186/s13073-017-0452-y

المؤلفون: I. V. Leontyeva, E. A. Nikolaeva, И. В. Леонтьева, Е. А. Николаева

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 61, № 3 (2016); 22-30 ; Российский вестник перинатологии и педиатрии; Том 61, № 3 (2016); 22-30 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2017-7-4

مصطلحات موضوعية: левокарнитин, cardiomyopathy, mitochondrial disease, Kearns–Sayre syndrome, MELAS syndrome, MERRF syndrome, NARP syndrome, Barth syndrome, Leigh syndrome, ubidecarenone, succinates, cytochrome C, levocarnitine, кардиомиопатия, митохондриальное заболевание, синдромы Кернса–Сейра, MELAS, MERRF, NARP, Барта, Ли, убидекаренон, сукцинаты, цитохром С

وصف الملف: application/pdf

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Cardiological manifestations of mitochondrial respiratory chain disorders. Acta Myologica 2011; XXX: 9–15.; Holmgren D., Wahlander H., Eriksson B.O. et al. Cardiomyopathy in children with mitochondrial disease: clinical course and cardiological findings. Eur Heart J 2003; 4: 280–288.; Kompare M., Rizzo W.B. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol 2008; 15: 140–149.; Noji H., Yoshida M. The rotary machine of the cell, ATP synthase. J Biol Chem 2001; 276: 1665–1668.; Niizuma K., Endo H., Chan P.H. Oxidative stress and mitochondrial dysfunction as determinants of ischemic neuronal death and survival. J Neurochem 2009; 109: 133–138.; Mehrazin M., Shanske S., Kaufmann P. et al. Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet 2009; 149: 584–587.; Zeviani M., Moraes C.T., DiMauro S. et al. Deletions of mitochondrial DNA in Kearns–Sayre syndrome. Neurology 1998; 51: 1525–1533.; Hudson G., Deschauer M., Taylor R.W. et al. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology 2006; 66: 1439–1441.; López-Gallardo E., López-Pérez M.J., Montoya J. et al. CPEO and KSS differ in the percentage and location of the mtDNA deletion. Mitochondrion 2009; 9: 314–317.; Van Goethem G., Martin J.J., Van Broeckhoven C. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Acta Neurol Belg 2002; 102: 39–42.; Papa S., Petruzzella V., Scacco S. et al. Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases. Biochim Biophys Acta 2009; 1787: 502–517.; Monnot S., Chabrol B., Cano A. et al. Cytochrome c oxydasedeficient Leigh syndrome with homozygous mutation in SURF1 gene. Arch Pediatr 2005; 12: 568–571.; Mobley B.C., Enns G.M., Wong L.J. et al. A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. Clin Neuropathol 2009; 28: 143–149.; Jordens E.Z., Palmieri L., Huizing M. et al. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Ann Neurol 2002; 52: 95–99.; Palmieri L., Alberio S., Pisano I. et al. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 2005; 14: 3079–3088.; Joost K., Rodenburg R., Piirsoo A. et al. A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatr Neurol 2010; 42: 227–230.; Zeviani M. The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 2001; 12: 407–416.; Николаева Е.А. Диагностика и профилактика ядерно-кодируемых митохондриальных заболеваний у детей. Рос вестн перинатол и педиатр 2014; 59: 2: 19–28. (Nikolaeva E.А. Diagnostics and prevention of nuclear coded mitochondrial diseases at children. Ros vestn perinatol i pediatr 2014; 59: 2: 19–28.); Colan S.D. Hypertrophic cardiomyopathy in childhood. Heart Fail Clin 2010; 6: 433–444.; Houtkooper R.H., Turkenburg M., Poll-The B.T. et al. The enigmaticrole of tafazzin in cardiolipin metabolism. Biochim Biophys Acta 2009; 1788: 2003.; Леонтьева И.В., Николаева Е.А. Поражение сердца при синдроме Барта. Рос вестн перинатол и педиатр 2016; 1: 26–32. (Leont’eva I.V., Nikolaeva E.А. Cardiac damage in Barth syndrome. Ros vestn perinatol i pediatr 2016; 1: 26–32.); Pandolfo M., Pastore A.The pathogenesis ofFriedreich ataxia and the structure and function of frataxin. J Neurol 2009; 256: 9–17.; Delatycki M.B. Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 2009; 256: Suppl 1: 36–41.; Yaplito-Lee J., Weintraub R., Jamsen K. et al. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr 2007; 150: 407–411.; Di Leo R., Musumeci O., de Gregorio C. et al. Evidence of cardiovascular autonomic impairment in mitochondrial disorders. J Neurol 2007; 254: 1498–1503.; Scaglia F., Towbin J.A., Craigen W.J. et al. Clinical spectrum, morbidity,and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925–931.; Wabbels B., Ali N., Kunz W.S. et al. Chronic progressive external ophthalmoplegia and Kearns–Sayre syndrome: interdisciplinary diagnosis and therapy. Ophthalmology 2008; 105: 550–556.; Young T.J., Shah A.K., Lee M.H., Hayes D.L. Kearns–Sayre syndrome: a case report and review of cardiovascular complications. Pacing Clin Electrophysiol 2005; 28: 454–457.; Леонтьева И.В., Николаева Е.А., Сухоруков В.С. Варианты поражения сердечно-сосудистой системы при синдроме Кернса–Сейра. Рос вестн перинатол и педиатр 1999; 6: 26–32. (Leont’eva I.V., Nikolaeva E.А., Suchorukov V.S. Variants of cardiovascular lesion in Kearns–Sayre syndrome. Рос вестн перинатол и педиатр 1999; 6: 26–32.); Charles R., Holt S., Kay J.M. et al. Myocardial ultrastructure and the development of atrioventricular block in Kearns–Sayre syndrome. Circulation 1981; 63: 214–219.; Fromenty B., Carrozzo R., Shanske S., Schon E.A. High proportions of mtDNA duplications in patients with Kearns–Sayre syndrome occur in the heart. Am J Med Genet 1997; 71: 4: 443–452.; Kakura H., Tachibana Y., Nakamura K. et al. Mitochondrial encephalomyopathy (Kearns–Sayre syndrome) with complete atrioventricular block: a case report. Jpn Circ J 1998; 62: 8: 623–625.; Lewy P., Leroy G., Haiat R. et al. Kearns–Sayre syndrome. A rare indication for prophylactic cardiac pacing. Arch Mal Coeur Vaiss 1997; 90: 1: 93–97.; Subbiah R.N., Kuchar D., Baron D. Torsades de pointes in a patient with Kearns–Sayre syndrome: a fortunate finding. Pacing Clin Electrophysiol 2007; 30: 137–139.; Consalvo D., Villegas F., Villa A. Severe cardiac failure in Kearns–Sayre syndrome. Medicina (B Aires) 1997; 57: 1: 67–71.; Akaike M., Kawai H., Yokoi K. Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. Clin Cardiol 1997; 20: 3: 239–243.; Kabunga P., Lau A.K., Phan K. et al. Systematic review of cardiac electrical disease in Kearns–Sayre syndrome and mitochondrial cytopathy. Int J Cardiol 2015; 181: 303–310.; Hübner G., Gokel J.M., Pongratz D. et al. Fatal mitochondrial cardiomyopathy in Kearns–Sayre syndrome. Virchows Arch A Pathol Anat Histopathol 1986; 408: 6: 611–621.; Krauch G., Wilichowski E., Schmidt K.G. et al. Pearson marrowpancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. Am J Med Genet 2002; 110: 57–61.; Sproule D.M., Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype,and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008; 1142: 133–158.; Kolb S.J., Costello F., Lee A.G. et.al. Distinguishing ischemic stroke from the stroke-like lesions of MELAS using apparent diffusion coefficient mapping. J Neurol Sci 2003; 216: 11–15.; GotoY.,Nonaka I.,Horai S.A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651–653.; Finsterer J. Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu (UUR) mutation. Acta Neurol Scand 2007; 116: 1–14.; Finsterer J. MELAS in the heart. Int J Cardiol 2009; 137: 65–66.; Anan R., Nakagawa M., Miyata M. et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995; 91: 955–961.; Sproule D.M., Kaufmann P., Engelstad K. et al. Wolff–Parkinson–White syndrome in patients with MELAS. Arch Neurol 2007; 64: 1625–1627.; Sato W., Tanaka M., Sugyama S. et al. Cardiomyopathy and angiopathy in patients with mithochondrial myopathy encephalopathy lactic acidosis and stroke like episodes. Amer Heart J 1994; 128: 4: 733–741.; Леонтьева И.В. Кардиомиопатии при первичной митохондриальной патологии. Лечащий врач 2002; 7-8: 58-66. (Leont’eva I.V. Cardiomyopathies at primary mitochondrial pathology. Lechashhij vrach 2002; 7-8: 58–66.); Molnar M.J., Perenyi J., Siska E. et al. The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders. J Neurol 2009; 256: 264–265.; Ozava T. Mitochondrial cardiomyopathy. Herz 1994; 19: 2: 105–118.; Wahbi K., Larue S., Jardel C. et al. Cardiac involvement is frequentin patients with the m.8344A>G mutation of mitochondrial DNA. Neurology 2010; 74: 674–677.; Сухоруков В.С. Очерки митохондриальной патологии. М: Медпрактика–М, 2011; 288. (Sukhorukov V.S. Mitochondrial pathology outlines. Moscow: Medpraktika 2011; 288.); López-Gallardo E., Solano A., Herrero-Martín M.D. et al. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. J Med Genet 2009; 46: 64–67.; Bugiani M., Invernizzi F., Alberio S. et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 2004; 1659: 136–147.; Piao Y.S., Tang G.C., Yang H. et al. Clinico-neuropathological study of a Chinese case of familiar adult Leigh syndrome. Neuropathol 2006; 26: 218–221.; Levitas A., Muhammad E., Harel G. et al. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet 2010; 18: 1160–1165.; Николаева Е.А., Яблонская М.И., Харабадзе М.Н. и др. Эффективность комплексной терапии при разных формах митохондриальных заболеваний у детей. Рос вестн перинатол и педиатр 2009; 6: 26-30. (Nikolaeva E.А., Yablonskaya M.I., Kharabadze M.N. et al. Efficiency of complex therapy at different forms of mitochondrial diseases at children. Ros vestn perinatol i pediatr 2009; 6: 26–30.); Arakawa K., Kudo T., Ikawa M. et al. Abnormal myocardial energyproduction state in mitochondrial cardiomyopathy and acute response to L-arginine infusion: C-11 acetate kinetics revealed by positron emission tomography. Circ J 2010; 74: 2702.; Finsterer J., Stöllberger C., Gelpi E. Successful heart failure therapy in mitochondrial disorder with noncompaction cardiomyopathy Int J Cardiovasc Imaging 2006; 22: 393–398.; Fosslien E. Mitochondrial medicine–cardiomyopathy caused by defective oxidative phosphorylation. Ann Clin Lab Sci 2003; 33: 371–395.; Santorelli F.M., Gagliardi M.G., Dionisi-Vici C. et al. Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation. Neuromuscul Disord 2002; 12: 56–59.; https://www.ped-perinatology.ru/jour/article/view/321

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/321
https://doi.org/10.21508/1027-4065-2016-61-3-22-30

المؤلفون: Blăniță, Daniela, Țurcan, Doina, Garaeva, Svetlana, Postolati, Galina, Sacară, Victoria, Wevers, Ron, Rodenburg, Richard, Ușurelu, Natalia

مصطلحات موضوعية: NARP syndrome, multisystemic affectation, mitochondrial disease

وصف الملف: application/pdf

Relation: Buletin de perinatologie; BLĂNIȚĂ, Daniela, ȚURCAN, Doina, GARAEVA, Svetlana, et al. Multisystem affection in child: Narp syndrome – mitochondrial disease (case presentation). In: Buletin de perinatologie. 2021, nr. 1(90), pp. 86-91. ISSN 1810-5289.; http://repository.usmf.md/./handle/20.500.12710/18216

الاتاحة: http://repository.usmf.md/./handle/20.500.12710/18216
https://hdl.handle.net/20.500.12710/18216

المؤلفون: Leire Juaristi, Jorge Quiroga, Cristina Irigoyen

المصدر: Retinal Cases & Brief Reports

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, genetic structures, Case Report, Fundus (eye), 01 natural sciences, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, retinitis pigmentosa, medicine, 0101 mathematics, Muscle biopsy, Retinal pigment epithelium, medicine.diagnostic_test, Neuropathy, ataxia, and retinitis pigmentosa, business.industry, 010102 general mathematics, Magnetic resonance imaging, General Medicine, medicine.disease, eye diseases, mitochondrial disease, medicine.anatomical_structure, 030221 ophthalmology & optometry, Spinocerebellar ataxia, Cerebellar atrophy, sense organs, medicine.symptom, NARP syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea3ea815f2b4fece8624ec6fb0abf76
http://europepmc.org/articles/PMC8219086

المؤلفون: Stéphane Schaeffer, Marie-Alice Laville, Patrick Mordel, Françoise Chapon, Quentin Dupas, Stéphane Allouche, Marion Gérard

المساهمون: Signalisation, électrophysiologie et imagerie des lésions d’ischémie-reperfusion myocardique (SEILIRM), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Centre de compétences pathologies neuromusculaires [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service d'ophtalmologie [CHU Caen], Université de Lorraine (UL), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Mobilités : Vieillissement, Pathologie, Santé (COMETE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Caen Normandie (UNICAEN), Service de biochimie [CHU Caen]

المصدر: Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2017, 494 (1-2), pp.133-137. ⟨10.1016/j.bbrc.2017.10.066⟩

مصطلحات موضوعية: Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, [SHS.PSY]Humanities and Social Sciences/Psychology, Biochemistry, Adenosine Triphosphate, 0302 clinical medicine, Mitochondrial myopathy, Cells, Cultured, Sequence Deletion, ATP6 deletion, Adenosine Triphosphatases, Membrane Potential, Mitochondrial, Genetics, High-Throughput Nucleotide Sequencing, Mitochondrial Myopathies, Syndrome, Mitochondrial Proton-Translocating ATPases, Heteroplasmy, 3. Good health, medicine.symptom, Retinitis Pigmentosa, Ataxia, Mitochondrial disease, Biophysics, Biology, DNA, Mitochondrial, Young Adult, 03 medical and health sciences, Complex V deficiency, Next generation sequencing, Retinitis pigmentosa, medicine, Humans, Molecular Biology, Base Sequence, Neuropathy, ataxia, and retinitis pigmentosa, [SCCO.NEUR]Cognitive science/Neuroscience, Membrane Proteins, Muscle weakness, Cell Biology, medicine.disease, Molecular biology, 030104 developmental biology, Myoclonic epilepsy, Oligomycins, NARP syndrome, Carrier Proteins, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b0bd52adaa3bd8e65dc4a83b5e2001f
https://doi.org/10.1016/j.bbrc.2017.10.066

المؤلفون: Array В. Бархатов, Array А. Щекалева, Array А. Чубко, Array О. Фалалеева, Array В. Шишкина, Array Ю. Макаревская, Array В. Борисова

المصدر: Russkij Žurnal Detskoj Nevrologii, Vol 11, Iss 3, Pp 57-61 (2016)

مصطلحات موضوعية: Mitochondrial DNA, Pediatrics, medicine.medical_specialty, Pathology, Ataxia, Muscle Hypotonia, diagnosis, Mitochondrial disease, Disease, Lesion, narp syndrome, neuropathy syndrome, Retinitis pigmentosa, medicine, RC346-429, Psychomotor learning, mitochondrial diseases, clinical manifestations, retinitis pigmentosa syndrome, treatment, business.industry, ataxia, medicine.disease, developmental delay, Pediatrics, Perinatology and Child Health, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::062712e72fcf918b73f205ebdd4765b8
https://rjdn.abvpress.ru/jour/article/view/168

المؤلفون: I. V. Leontyeva, E. A. Nikolaeva

المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 61, Iss 3, Pp 22-30 (2016)

مصطلحات موضوعية: levocarnitine, kearns–sayre syndrome, ubidecarenone, melas syndrome, Pediatrics, RJ1-570, mitochondrial disease, narp syndrome, cytochrome c, children, Pediatrics, Perinatology and Child Health, merrf syndrome, barth syndrome, leigh syndrome, succinates, cardiomyopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0dae1dcd3acc88ec6e98848b57434a
https://www.ped-perinatology.ru/jour/article/view/321

المؤلفون: Arnold Munnich, Caroline Demily, Alice Poisson, Nathalie Boddaert, Charlyne Duwime

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 20-22 (2017)

مصطلحات موضوعية: 0301 basic medicine, Myoclonus, Psychosis, medicine.medical_specialty, Ataxia, Mitochondrial disease, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, m.8993T > C mutation, Internal medicine, Retinitis pigmentosa, Correspondence, Genetics, Medicine, Myoclonic seizures, Molecular Biology, lcsh:QH301-705.5, Clozapine, lcsh:R5-920, business.industry, Low dose, medicine.disease, lcsh:Biology (General), Anesthesia, Mutation (genetic algorithm), medicine.symptom, NARP syndrome, business, m.8993T>C mutation, lcsh:Medicine (General), 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa3947ee2eb79289849efbe4f9463f3d
http://europepmc.org/articles/PMC5157794

المؤلفون: Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, Geneviève, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C Geoffrey, Rauch, Anita, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine, Geneviève, David, Julia, Julia, Woods, C. Geoffrey, Mordel, S, Schaeffer, Stéphane, Dupas, S., Laville, Marie-Alice, Chapon, Françoise, Allouche, S., Mordel, Patrick, Dupas, Quentin, Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gérard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

المساهمون: Université libre de Bruxelles (ULB), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), University of Turin, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' [Trieste], Service de Génétique Clinique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Elizabeth University Hospital (Glasgow), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Università degli Studi di Siena = University of Siena (UNISI), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sahlgrenska University Hospital [Gothenburg], Université Catholique de Louvain = Catholic University of Louvain (UCL), Universiteit Gent = Ghent University [Belgium] (UGENT), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Unité fonctionnelle de génétique clinique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Antwerp (UA), Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Service de Génétique, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Centre for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)-University Hospitals Leuven [Leuven], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Clermont-Ferrand, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de génétique médicale, CHU Amiens-Picardie, Service Neuropédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre de Génétique Humaine, Université de Liège-CHU Liège, Service de pédiatre-Néonatologie, CH Villefranche s/Saone, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre [Strasbourg], Medical Genetics, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Service d'imagerie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Département de génétique, Allergy Unit - Department of Dermatology, University of Zürich [Zürich] (UZH), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Department of Biology [Utah], University of Utah, Laboratoire Evolution, Génomes et Spéciation (LEGS), Centre National de la Recherche Scientifique (CNRS), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de biochimie [CHU Caen], Signalisation, électrophysiologie et imagerie des lésions d’ischémie-reperfusion myocardique (SEILIRM), Département Génétique Médicale-Maternité, Université de Lorraine (UL), Center for Medical Genetics, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Department of Human Genetics, Radboud University Medical Center [Nijmegen], AI-lab, Vakgroep Computerwetenschappen, Universiteit Gent [Ghent], gerard, marion, Università degli studi di Torino = University of Turin (UNITO), Universiteit Gent = Ghent University (UGENT), Informatics and Applied Informatics

المصدر: Genome Medicine
Genome Medicine, BioMed Central, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩
Genome medicine, vol. 9, no. 1, pp. 67
Genome Medicine, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩
Genome Medicine, Vol 9, Iss 1, Pp 1-20 (2017)
Genome medicine, 9 (1

مصطلحات موضوعية: Male, 0301 basic medicine, Guanylate Kinases/genetics, Developmental Disabilities, Intellectual disability, lcsh:Medicine, ASPM, brain imaging, brain development, Tumor Suppressor Proteins -- genetics, Genome, Mice, Intellectual Disability -- genetics -- metabolism, Global developmental delay, Copy-number variation, Promoter Regions, Genetic, Child, Genetics (clinical), Epigenomics, Genetics, ATP6 deletion, Membrane Proteins -- genetics, primary microcephaly, Neurodevelopmental disorders, food and beverages, Functional genomics, Exons, DLG2, Promoters, Animals, Female, Guanylate Kinases, Humans, Intellectual Disability, Membrane Proteins, Tumor Suppressor Proteins, Molecular Medicine, Molecular Biology, Sciences bio-médicales et agricoles, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Guanylate Kinases -- genetics, lcsh:QH426-470, Developmental Disabilities/genetics, Developmental Disabilities/metabolism, Intellectual Disability/genetics, Intellectual Disability/metabolism, Membrane Proteins/genetics, Tumor Suppressor Proteins/genetics, Genomics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Promoter Regions, 03 medical and health sciences, Genetic, Complex V deficiency, Next generation sequencing, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene, MCPH, Developmental Disabilities -- genetics -- metabolism, Research, lcsh:R, Human genetics, Mitochondrial disease, lcsh:Genetics, 030104 developmental biology, centrosome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NARP syndrome

وصف الملف: application/pdf; 1 full-text file(s): application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a577128fe8e8dc2f3734aca318cfa5
https://hal-normandie-univ.archives-ouvertes.fr/hal-02268433

المؤلفون: Kabala, Anna Magdalena

Thesis Advisors: Bordeaux, ACADEMIE POLONAISE DES SCIENCES, Di Rago, Jean-Paul, Kucharczyk, Roza

مصطلحات موضوعية: ATP synthase, Syndrome NARP, Cancer, Biogenese de l’ATP synthase, NARP syndrome, Biogenesis of ATP synthase

الاتاحة: http://www.theses.fr/2014BORD0366/document

المؤلفون: Kabala, Anna Magdalena

المساهمون: Bordeaux, ACADEMIE POLONAISE DES SCIENCES, Di Rago, Jean-Paul, Kucharczyk, Roza

مصطلحات موضوعية: ATP synthase, Syndrome NARP, Cancer, Biogenese de l’ATP synthase, NARP syndrome, Biogenesis of ATP synthase

Relation: http://www.theses.fr/2014BORD0366/document

الاتاحة: http://www.theses.fr/2014BORD0366/document

المؤلفون: Pertti Aula, Vesa Juvonen, Mårten Wikström, Eeva Nikoskelainen, Anna Majander, Marja-Liisa Savontaus, Tarja Lamminen

المصدر: FEBS letters. 412(2)

مصطلحات موضوعية: Protein subunit, Mitochondrial disease, Mutant, Biophysics, Oxidative phosphorylation, Mitochondrion, Biology, medicine.disease_cause, Biochemistry, DNA, Mitochondrial, Oxidative Phosphorylation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Adenosine Triphosphate, Optic Atrophies, Hereditary, Structural Biology, Genetics, medicine, Humans, Molecular Biology, 030304 developmental biology, 0303 health sciences, Mutation, ATP synthase, Proton translocation, Cell Biology, Syndrome, Leber's disease, medicine.disease, Molecular biology, Kinetics, Proton-Translocating ATPases, chemistry, F0, biology.protein, NARP syndrome, Leber hereditary optic neuropathy, Adenosine triphosphate, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2f68e7ea0a696966adc0b0c19ffc720
https://pubmed.ncbi.nlm.nih.gov/9256250

المؤلفون: Willy Lissens, Sara Seneca, Ingeborg Liebaers, L. De Meirleir

المساهمون: Department of Embryology and Genetics, Pediatrics

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: Genetics, Mitochondrial DNA, Sequence analysis, Restriction Mapping, Nucleic acid sequence, Neuromuscular Diseases, Syndrome, Biology, DNA, Mitochondrial, Human genetics, Blotting, Southern, Neuromuscular Diseases/genetics, Mutation, Humans, Ataxia, NARP syndrome, Genetics (clinical), Retinitis Pigmentosa, Southern blot

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc21d58f7be6df2deb4b2564e2d2d8d
https://biblio.vub.ac.be/vubir/importance-of-sequence-analysis-in-narp-syndrome(2c90dc98-62bf-42d2-89f3-a032d4b07408).html

المؤلفون: Elodie Couplan, Roza Kucharczyk, Jean-Paul di Rago, Marc Blondel, Sharon H. Ackerman, Vincent Procaccio, Nahia Ezkurdia

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. (6-7):1105-1112

مصطلحات موضوعية: Saccharomyces cerevisiae Proteins, Oligomycin, Mutation, Missense, Biophysics, Saccharomyces cerevisiae, In Vitro Techniques, Mitochondrion, DNA, Mitochondrial, Biochemistry, Article, chemistry.chemical_compound, Adenosine Triphosphate, Oxygen Consumption, ATP synthase gamma subunit, Enzyme Stability, Humans, V-ATPase, Enzyme Inhibitors, DNA Primers, Base Sequence, biology, ATP synthase, Chemiosmosis, Cell Biology, Mitochondrial Proton-Translocating ATPases, Leigh syndrome, Recombinant Proteins, Mitochondrial disease, Yeast, Mitochondrial DNA, Kinetics, Protein Subunits, Amino Acid Substitution, chemistry, Mitochondrial matrix, Mutagenesis, Site-Directed, biology.protein, Mutant Proteins, Oligomycins, ATP–ADP translocase, NARP syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d1c30583836b2d92eb2aa9ccf0a48f

المؤلفون: KABALA, Anna Magdalena

المساهمون: Di Rago, Jean-Paul, Kucharczyk, Roza, Choquet, Yves, Becker, Hubert

مصطلحات موضوعية: ATP synthase, Syndrome NARP, Cancer, Biogenese de l’ATP synthase, NARP syndrome, Biogenesis of ATP synthase

Relation: http://www.theses.fr/2014BORD0366/abes; https://tel.archives-ouvertes.fr/tel-01504207; 2014BORD0366

الاتاحة: http://www.theses.fr/2014BORD0366/abes
https://tel.archives-ouvertes.fr/tel-01504207