Results 21 to 30 of about 371,748 (188)

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy [PDF]

, 2012
Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...
Baharak Hooshiar Kashani, Valentino, M. (M) L. (L), Bernd Wissinger, Sascha Fauser (144944), Dollfus, Helene, Valerio Carelli (24588), Barboni P., Helene Dollfus, Pizza, F. (F), Fauser Sascha, De Negri AM, Wissinger B., Chiara La Morgia, Chiara La Morgia (24595), Procaccio P, Piero Barboni, Fabio Pizza, Dollfus H., Valerio Carelli, Achilli, A., Liguori R., Dollfus H, Carelli, Valerio, Zeviani M, Torroni, Antonio, Barboni, P. (P), Rocco Liguori, Hooshiar Kashani, Baharak, P. Barboni, De Negri A. M., B. Leo-Kottler, Hooshiar Kashani Baharak, Amati-Bonneau Patrizia, Luisa Iommarini (144907), Vincent Procaccio, Massimo Zeviani (81459), Achilli, A. (A), Sadun, F., A. Achilli, Ducos Ghislaine, Wissinger, Bernd, Achilli A., Zeviani Massimo, Bonneau, D. (D), Christophe Orssaud, Massimo Zeviani, Maria Lucia Valentino, La Morgia C, Patrizia Amati-Bonneau (144951), Dollfus Helene, Maria Lucia Valentino (144915), Torroni, A., Maria Pala, Reynier, Pascal, Leo-Kottler Beate, La Morgia C., Iommarini Luisa, Amati-Bonneau, P. (P), Pizza F, Achilli Alessandro, Reynier, P. (P), Pizza, Fabio, Ducos, G. (G), Olivieri, A. (A), Procaccio V., Iommarini L., Hooshiar Kashani B., Valentino ML, C. Orssaud, Procaccio, Vincent, Leo-Kottler B., Torroni Antonio, Moulignier A., Liguori, R. (R), Zeviani, Massimo, Carelli Valerio, Orssaud, Christophe, Hooshiar Kashani, B. (B), Leo Kottler B, Liguori, Rocco, De Negri, A. (A) M. (M), Antoine Moulignier, Barboni P, Piero Barboni (24591), Dominique Bonneau, Wissinger, B. (B), Pala, M. (M), P. Reynier, P. Amati-Bonneau, A. Olivieri, M. Zeviani, Pizza F., C. La Morgia, Federico Sadun (144922), S. Fauser, Barboni, Piero, Orssaud, C. (C), Pala, Maria, Sadun, Federico, Baharak Hooshiar Kashani (144912), Moulignier, Antoine, Fauser, S. (S), Anna Maria De Negri, F. Pizza, Antonio Torroni, Fabio Pizza (144919), Sadun F, Bonneau D, Barboni, P., R. Liguori, Fauser, S., Valentino, M., Amati-Bonneau, Patrizia, Dominique Bonneau (144939), Pascal Reynier (92729), De Negri, Anna Maria, Ghislaine Ducos (144931), H. Kashani, Moulignier A, Moulignier, A. (A), La Morgia, Chiara, Alessandro Achilli, Orssaud Christophe, Carelli, V. (V), Procaccio, V. (V), Fauser, Sascha, Beate Leo-Kottler (144941), Sadun, F. (F), De Negri Anna Maria, Reynier Pascal, Amati-Bonneau P., Federico Sadun, Vincent Procaccio (68193), Pala M., Carelli V., Helene Dollfus (144926), Pascal Reynier, La Morgia Chiara, Beate Leo-Kottler, F. Sadun, Sadun F., Fauser S, M. Pala, Anna Olivieri, Antonio Torroni (42164), Rocco Liguori (144916), H. Dollfus, Fauser S., Leo-Kottler, B., Maria Pala (144910), Olivieri Anna, Anna Olivieri (144908), Amati Bonneau P, de Negri, A., Ghislaine Ducos, Anna Maria De Negri (144924), Moulignier, A., Pala Maria, Luisa Iommarini, Kashani, Hooshiar, Liguori, R., Torroni A., Pala, M., Liguori R, D. Bonneau, Bonneau, Dominique, M.L. Valentino, A. Moulignier, Zeviani, M. (M), Ducos, Ghislaine, Olivieri A., Sascha Fauser, Olivieri, Anna, La Morgia, C. (C), Ducos, G., Antoine Moulignier (144928), Iommarini L, Orssaud C, Bonneau D., A.M. De Negri, Bernd Wissinger (24666), L. Iommarini, Leo-Kottler, Beate, Pizza, F., Valentino M. L., Reynier P, Barboni Piero, Ducos G, Olivieri, A., Ducos G., Bonneau Dominique, Iommarini, Luisa, Leo Kottler B., Reynier P., Orssaud C., Christophe Orssaud (144936), Amati Bonneau P., V. Carelli, V. Procaccio, Zeviani M., Valentino Maria Lucia, Sadun Federico, Dollfus, H. (Helene), Leo-Kottler, B. (B), Iommarini, L. (L), A. Torroni, Procaccio Vincent, B. Wissinger, Wissinger Bernd, Wissinger B, Torroni, A. (A), Achilli, Alessandro, Alessandro Achilli (42157), Liguori Rocco, Valentino, Maria Lucia, Patrizia Amati-Bonneau, Pizza Fabio, Moulignier Antoine, G. Ducos, Iommarini, L.   +219 more
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Mitochondrial DNA mutations affect calcium handling in differentiated neurons. [PDF]

, 2010
Contains fulltext : 88975.pdf (Publisher’s version ) (Closed access)Mutations in the mitochondrial genome are associated with a wide range of neurological symptoms, but many aspects of the basic neuronal pathology are not understood ...
Enriquez, J.A., Turnbull, D.M., Smulders-Srinivasan, Tora, Lightowlers, R.N., Trevelyan, A.J., Nooteboom, Marco, Nooteboom, M., Smulders-Srinivasan, T.K., Smulders-Srinivasan, Tora K., Acin-Perez, Rebeca, Whittington, Miles A., Lightowlers, Robert N., Whittington, M.A., Turnbull, Doug, Kirby, Denise M., Trevelyan, Andrew, Smulders-Srinivasan, Tora K.; id_orcid, Acin-Perez, Rebecca, Trevelyan, Andrew J., Turnbull, Doug M., Acin-Perez, R., Enriquez, José Antonio, Kirby, Denise, Lightowlers, Robert, Kirby, D.M., Enriquez, Jose, Whittington, Miles   +26 more
core   +2 more sources

Small mitochondrial-targeted RNAs modulate endogenous mitochondrial protein expression in vivo

Neurobiology of Disease, 2014
Endogenous mitochondrial genes encode critical oxidative phosphorylation components and their mutation results in a set of disorders known collectively as mitochondrial encephalomyopathies. There is intensive interest in modulating mitochondrial function
Atif Towheed, Desiree M. Markantone, Aaron T. Crain, Alicia M. Celotto, Michael J. Palladino   +4 more
doaj   +1 more source

Mitochondrial myopathy and myoclonic epilepsy

Arquivos de Neuro-Psiquiatria, 1990
The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one
Walter O. Arruda, Luiz F. B. Torres, Anne lombes, Salvatore Dimauro, Belkiss A. Cardoso, Hélio A. G. Teive, Duilton de Paola, Ricardo R. Seixas   +7 more
doaj   +1 more source

Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy

BioMedica, 2020
Background and Objective:  Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu   +5 more
doaj   +1 more source

Kearns-Sayre syndrome: An unusual ophthalmic presentation

Oman Journal of Ophthalmology, 2012
Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary ...
Syed S Ahmad, Shuaibah A Ghani
doaj   +1 more source

Disease network data for the pesticide fipronil in rat dopamine cells

Data in Brief, 2021
Transcriptome data were collected in rat dopamine cells exposed to fipronil for 24 h using microarray analysis. Fipronil is a phenylpyrazole pesticide that acts to inhibit gamma-aminobutyric acid (GABA), blocking inhibitory synaptic transmission in the ...
Christopher L. Souders II, Anna Rushin, Christina L. Sanchez, Darby Toth, Ondrej Adamovsky, Christopher J. Martyniuk   +5 more
doaj   +1 more source

Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency)

Вопросы современной педиатрии, 2016
Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of ...
Ye. P. Kolesnikova, L. M. Kuzenkova, K. V. Savostyanov, O. V. Globa, T. V. Podkletnova   +4 more
doaj   +1 more source

NEW MORPHOLOGICAL APPROACHES TO THE STUDY OF MITOCHONDRIAL ENCEPHALOMYOPATHIES

, 1992
Molecular genetics, biochemistry, immunology and morphology, are being applied in a coordinated fashion to unveil the molecular basis of the mitochondrial encephalomyopathies.
SCIACCO M, BONILLA E, PETRUZZELLA, Vittoria, SPARACO M, MORAES CT, TANJI K   +5 more
core   +2 more sources

Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia

Frontiers in Neurology, 2020
Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases.
Guanyu Zhang, Guanyu Zhang, Yue Hou, Zhaoxia Wang, Zheng Ye   +4 more
doaj   +1 more source