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ArticlesPeer ReviewedFull Text
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Author / Creator:de Boer, Elke ; Ockeloen, Charlotte W ; Matalonga, Leslie ; Horvath, Rita ; Rodenburg, Richard J ; Coenen, Marieke J H ; Janssen, Mirian ; Henssen, Dylan ; Gilissen, Christian ; Steyaert, Wouter ; Paramonov, Ida ; Trimouille, Aurélien ; Kleefstra, Tjitske ; Verloes, Alain ; Vissers, Lisenka E L M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1359-1368
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Commentary: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A > G point mutation: neuroradiological features and their implications for underlying pa...
Author / Creator:Finsterer, Josef ; Mehri, Sounira
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in neuroscience, 2023-04, Vol.17, p.1173654-1173654
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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Author / Creator:de Boer, Elke ; Ockeloen, Charlotte W ; Matalonga, Leslie ; Horvath, Rita ; Rodenburg, Richard J ; Coenen, Marieke J H ; Janssen, Mirian ; Henssen, Dylan ; Gilissen, Christian ; Steyaert, Wouter ; Paramonov, Ida ; Trimouille, Aurélien ; Kleefstra, Tjitske ; Verloes, Alain ; Vissers, Lisenka E L M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1470-1471
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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: Neuroradiological features and their implications for underlying pathogenesis
Author / Creator:Zheng, Helin ; Zhang, Xuemei ; Tian, Lu ; Liu, Bo ; He, Xiaoya ; Wang, Longlun ; Ding, Shuang ; Guo, Yi ; Cai, Jinhua
Publisher:Switzerland: Frontiers Media S.A
Journal title:Frontiers in neuroscience, 2023-01, Vol.16, p.1028762-1028762
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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
Author / Creator:Fałek, Olga ; Wesół-Kucharska, Dorota ; Starostecka, Ewa ; Rokicki, Dariusz ; Fortecka-Piestrzeniewicz, Katarzyna ; Kępczyński, Łukasz ; Piekutowska-Abramczuk, Dorota ; Ciara, Elżbieta ; Maroszyńska, Iwona
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-09, Vol.15 (10), p.1289
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Family Occurrence of an m.3303CT Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
Author / Creator:Falek, Olga ; Wesol-Kucharska, Dorota ; Starostecka, Ewa ; Rokicki, Dariusz ; Fortecka-Piestrzeniewicz, Katarzyna ; Ke;pczynski, Lukasz ; Piekutowska-Abramczuk, Dorota ; Ciara, Elzbieta ; Maroszynska, Iwona
Publisher:MDPI AG
Journal title:Genes, 2024-10, Vol.15 (10)
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Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302AG mutation in the MT-TL1 gene: A case report
Author / Creator:Huang, Gang ; Wang, Yanmei ; Yao, Dongyuan
Publisher:Spandidos Publications
Journal title:Experimental and therapeutic medicine, 2023-02, Vol.25 (2)
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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9,...
Author / Creator:de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie ; Horvath, Rita ; Cohen, Enzo ; Nelson, Isabelle ; Rodenburg, Richard J. ; Coenen, Marieke J. H. ; Janssen, Mirian ; Henssen, Dylan ; Gilissen, Christian ; Steyaert, Wouter ; Paramonov, Ida ; Trimouille, Aurelien ; Kleefstra, Tjitske ; Verloes, Alain ; Vissers, Lisenka E. L. M.
Publisher:Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1470-1471
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Variants of MT-RNR2, MT-TI and MT-TL1 Genes in Hypertrophic Cardiomyopathy Families of Pakistan
Author / Creator:Khan, Muhammad ; Khan, Tehmina Ameer ; Din, Aziz Ud ; Khan, Muhammad Fiaz ; Ullah, Irfan ; Ullah, Kalim ; Tabassum, Sadia
Publisher:Lahore: Knowledge Bylanes
Journal title:Pakistan journal of zoology, 2020-12, Vol.52 (6), p.2201
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Evaluation of the tRNA-Leu (UUR) gene haplotype profile observed in canine mammary gland tumours based on comparative analysis with the MT-TL1 human gene
Author / Creator:Kowal, Krzysztof ; Tkaczyk-Wlizło, Angelika ; Pierzchała, Mariusz ; Ślaska, Brygida
Publisher:Kraków: Sciendo
Journal title:Annals of animal science, 2022-07, Vol.22 (3), p.915-922
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Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss
Author / Creator:Balali, Maryam ; Kamalidehghan, Behnam ; Farhadi, Mohammad ; Ahmadipour, Fatemeh ; Ashkezari, Mahmoud Dehghani ; Hemami, Mohsen Rezaei ; Arabzadeh, Hossein ; Falah, Masoumeh ; Meng, Goh Yong ; Houshmand, Massoud
Publisher:New Zealand: Taylor & Francis Ltd
Journal title:Therapeutics and clinical risk management, 2016-01, Vol.12 (Issue 1), p.117-128
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ArticlesFull Text
Early Detection of Common Deafness Gene Mutations Associated with Diagnosis and Treatment
Author / Creator:Thanh, Cao Minh ; Hanh, Pham Vu Hong ; Tuan, Nguyen Minh ; Hung, Cao Minh ; Quyen, Le Thi ; Anh, Pham Quang ; Trang, Nguyen Thi
Publisher:Arad: "Vasile Goldis" Western University Arad, Romania
Journal title:Annals of the Romanian society for cell biology, 2021-01, Vol.25 (1), p.3173-3179
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Data from University Hospital Pisa Advance Knowledge in Mitochondrial Diseases and Conditions (A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2022-12, p.1531
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Hazara University Reports Findings in Hypertrophic Cardiomyopathy (Variants of Mt-rnr2, Mt-ti and Mt-tl1 Genes In Hypertrophic Cardiomyopathy Families of Pakistan)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2021-01, p.2476
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Newsletter articlesFull Text
First People's Hospital of Yunnan Province Reports Findings in Hearing Loss (Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in South...
Publisher:NewsRX LLC
Journal title:China Weekly News, 2024, p.188
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Study Results from University of Life Sciences Lublin Broaden Understanding of Animal Science [Evaluation of the Trna-leu Gene Haplotype Profile Observed In Canine Mammary Gland Tumours Based On Compa...
Publisher:NewsRX LLC
Journal title:Life Science Weekly, 2022, p.6606
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Investigators at Jiangxi Province People's Hospital Detail Findings in Myoclonic Epilepsies (Myoclonic Epilepsy With Ragged Red Fibers Syndrome Associated With Mitochondrial 3302ag Mutation In the Mt-...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2023, p.1971
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Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT‑TL1 gene: A case report
Author / Creator:Huang, Gang ; Wang, Yanmei ; Yao, Dongyuan
Publisher:Athens: Spandidos Publications UK Ltd
Journal title:Experimental and therapeutic medicine, 2023-02, Vol.25 (2), Article 87
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Hypertrophic cardiomyopathy as the initial presentation of mitochondrial disease in an infant born to a diabetic mother
Author / Creator:Byun, Jun Chul ; Choi, Hee Joung
Publisher:England
Journal title:Cardiology in the young, 2023-09, Vol.33 (9), p.1-1745
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Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome
Author / Creator:Na, Ji-Hoon ; Lee, Young-Mock
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2024-12, Vol.14 (12), p.1524
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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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Commentary: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A > G point mutation: neuroradiological features and their implications for underlying pa...

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: Neuroradiological features and their implications for underlying pathogenesis

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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

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Family Occurrence of an m.3303CT Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

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Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302AG mutation in the MT-TL1 gene: A case report

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9,...

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Variants of MT-RNR2, MT-TI and MT-TL1 Genes in Hypertrophic Cardiomyopathy Families of Pakistan

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Evaluation of the tRNA-Leu (UUR) gene haplotype profile observed in canine mammary gland tumours based on comparative analysis with the MT-TL1 human gene

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Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss

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Early Detection of Common Deafness Gene Mutations Associated with Diagnosis and Treatment

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Data from University Hospital Pisa Advance Knowledge in Mitochondrial Diseases and Conditions (A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report)

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Hazara University Reports Findings in Hypertrophic Cardiomyopathy (Variants of Mt-rnr2, Mt-ti and Mt-tl1 Genes In Hypertrophic Cardiomyopathy Families of Pakistan)

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First People's Hospital of Yunnan Province Reports Findings in Hearing Loss (Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in South...

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Study Results from University of Life Sciences Lublin Broaden Understanding of Animal Science [Evaluation of the Trna-leu Gene Haplotype Profile Observed In Canine Mammary Gland Tumours Based On Compa...

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Investigators at Jiangxi Province People's Hospital Detail Findings in Myoclonic Epilepsies (Myoclonic Epilepsy With Ragged Red Fibers Syndrome Associated With Mitochondrial 3302ag Mutation In the Mt-...

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Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT‑TL1 gene: A case report

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Hypertrophic cardiomyopathy as the initial presentation of mitochondrial disease in an infant born to a diabetic mother

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Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome

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