Results 71 to 80 of about 6,089,967 (287)

Exploring mTOR inhibition as treatment for mitochondrial disease

Annals of Clinical and Translational Neurology, 2019
Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin Jr, Darryl C. De Vivo   +6 more
doaj   +1 more source

Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]

, 2008
Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas, Glaser, Mirjam, Strupp, Michael, Wagner, Judith N.   +3 more
core   +1 more source

Interferon‐gamma contributes to disease progression in the Ndufs4(−/−) model of Leigh syndrome

Neuropathology and Applied Neurobiology
Leigh syndrome (LS), the most common paediatric presentation of genetic mitochondrial dysfunction, is a multi‐system disorder characterised by severe neurologic and metabolic abnormalities.
Allison Hanaford, A. Khanna, K. James, Vivian Truong, Ryan W Liao, Yihan Chen, Michael Mulholland, Ernst-Bernhard Kayser, Kino Watanabe, Erin Shien Hsieh, M. Sedensky, Philip G Morgan, V. Kalia, S. Sarkar, Simon C. Johnson   +14 more
semanticscholar   +1 more source

Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome

Internal medicine, 2022
A 26-year-old woman developed a sudden headache, ptosis, and diplopia. Magnetic resonance imaging and angiography demonstrated a symmetrical lesion from the midbrain to the brainstem, involving the solitary nucleus and multifocal cerebral artery ...
Ayane Ohyama-Tamagake, K. Kaneko, Ryo Itami, Masatsugu Nakano, Yasuhiro Namioka, R. Izumi, Haruka Sato, Hideaki Suzuki, A. Takeda, Yasushi Okazaki, Y. Yatsuka, Takaaki Abe, K. Murayama, N. Sugeno, T. Misu, M. Aoki   +15 more
semanticscholar   +1 more source

Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

Pediatrics and Neonatology, 2008
Mutation of mitochondrial DNA (mtDNA) G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and Leigh syndrome.
Shi-Bing Wang, Wen-Chin Weng, Ni-Chung Lee, Wuh-Liang Hwu, Pi-Chuan Fan, Wang-Tso Lee   +5 more
doaj   +1 more source

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy [PDF]

, 2018
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in ...
Abiri, Maryam, Aristodemou, Sophia, Ertel, Adam, Fortina, Paolo, Kajbafzadeh, Abdol-Mohammad, Kariminejad, Ariana, Liu, Lu, Londin, Eric, Mahmoudi, Hamidreza, McGrath, John A., Saeidian, Amir Hossein, Touati, Andrew, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +15 more
core   +1 more source

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy

Neurology: Genetics, 2022
Objectives Leigh syndrome is a progressive encephalopathy characterized by symmetrical lesions in brain. This study aimed to investigate the clinicopathologic and genetic characteristics of a family with Leigh syndrome and hereditary neuropathy with ...
Yasuko Kuroha, T. Ishiguro, M. Tada, N. Hara, K. Murayama, I. Kawachi, K. Kasuga, A. Miyashita, Arika Hasegawa, Tetsuya Takahashi, N. Matsubara, O. Onodera, A. Kakita, R. Koike, T. Ikeuchi   +14 more
semanticscholar   +1 more source

Real‐World Effectiveness of Switching to Oral or Infusion Versus Injectable Disease‐Modifying Therapy in Pediatric Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective To assess real‐world effectiveness of switching disease‐modifying therapy (DMT) in pediatric multiple sclerosis (MS) and clinically isolated syndrome (CIS) initially treated with platform injectables on disease activity. Methods Of 2615 pediatric‐onset demyelinating disease patients at 12 clinics in the United States (US) Network of Pediatric
Aaron W. Abrams, Michael Waltz, T. Charles Casper, Gregory Aaen, Leslie A. Benson, Eva‐Chava M. Bernfeld, Leigh E. Charvet, Tanuja Chitnis, Carla Francisco, Mark P. Gorman, Jennifer S. Graves, Lauren Krupp, Kimberly O'Neill, Timothy E. Lotze, Soe Mar, Jayne Ness, Mary Rensel, Moses Rodriguez, John Rose, Alice Rutatangwa, Teri Schreiner, Nikita Shukla, Jan‐Mendelt Tillema, Bianca Weinstock‐Guttman, Yolanda Wheeler, Emmanuelle Waubant, Kristen M. Krysko, on behalf of the US Network of Pediatric MS Centers   +27 more
wiley   +1 more source

Ophthalmologic involvement in Leigh syndrome [PDF]

Acta Ophthalmologica, 2016
no ...
Zarrouk-Mahjoub, Sinda, Finsterer, Josef
openaire   +6 more sources

A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations

Medicine, 2020
Leigh syndrome (also called Leigh disease or subacute necrotizing encephalomyelopathy) is a rare inherited neurometabolic disorder, which affects the central nervous system.
Xueli Chang, Yaxin Wu, Jie Zhou, Huaxing Meng, Wei Zhang, Junhong Guo   +5 more
semanticscholar   +1 more source