Not logged in Neuroimaging in cerebral folate deficiencies Biswas, Asthik; Chhatwal, Karanjot; Singh, Rahul; Hemingway, Cheryl; Hacohen, Yael; Reddy, Nihaal; Rehsi, Preeya; Siddiqui, Ata; Menzies, Lara; Mankad, Kshitij; Rahman, Shamima; Sudhakar, Sniya Share Save
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Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients Kristensen, Erle; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Karppa, Mikko; Martikainen, Mika H.; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Sue, Carolyn M.; Walker, Judith Sylvia; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Hikmat, Omar Share Save
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Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders Wahedi, Azizia; Sudhakar, Sniya; Lam, Amanda; Ciancio, Jose Ignacio Rodriguez; Mills, Philippa; Gissen, Paul; Gardham, Alice; Kapadia, Jogesh; Hassell, Jane; Heales, Simon; Rahman, Shamima Share Save
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Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study Kristensen, Erle; Mathisen, Linda; Berland, Siren; Klingenberg, Claus; Brodtkorb, Eylert; Rasmussen, Magnhild; Tangeraas, Trine; Bliksrud, Yngve T.; Rahman, Shamima; Bindoff, Laurence Albert; Hikmat, Omar Share Save
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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum McCormick, Elizabeth; Keller, Kierstin P.; Taylor, Julie J.; Coffey, Alison; Shen, Lishuang; Krotoski, Danuta; Harding, Brian; Gai, Xiaowu J.; Falk, Marni; Zolkipli-Cunningham, Zarazuela; Rahman, Shamima Share Save
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities Whittle, Ella F.; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D.; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M.; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carrol, Christopher J. Share Save
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases Sturm, Gabriel; Karan, Kalpita R.; Monzel, Anna S.; Santhanam, Balaji; Taivassalo, Tanja; Bris, Celine; Ware, Sarah A.; Cross, Marissa; Towheed, Atif; Higgins-Chen, Albert; McManus, Meagan J.; Cardenas, Andres; Lin, Jue; Epel, Elissa S.; Rahman, Shamima; Vissing, John; Grassi, Bruno; Levine, Morgan; Horvath, Steve; Haller, Ronald G.; Lenaers, Guy; Wallace, Douglas C.; St-Onge, Marie-Pierre; Tavazoie, Saeed; Procaccio, Vincent; Kaufman, Brett A.; Seifert, Erin L.; Hirano, Michio; Picard, Martin Share Save
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing Macken, William L.; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E.; Patel, Yogen; Labrum, Robyn; Phadke, Rahul; Reilly, Mary M.; DeVile, Catherine; Sarkozy, Anna; Footitt, Emma; Davison, James; Rahman, Shamima; Houlden, Henry; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G.; Vandrovcova, Jana; Pitceathly, Robert D. S. Share Save
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