 Connection
Marisa Friederich to Humans
This is a "connection" page, showing publications Marisa Friederich has written about Humans.
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Connection Strength |
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0.182 |
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Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab. 2021 08; 133(4):362-371.
Score: 0.021
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Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR, Banerjee R, Haack TB, Van Hove JLK. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 09; 43(5):1024-1036.
Score: 0.019
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Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab. 2020 03; 129(3):236-242.
Score: 0.019
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Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, Gonz?lez C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fern?ndez-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 10 03; 9(1):4065.
Score: 0.018
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Friederich MW, Erdogan AJ, Coughlin CR, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2017 02 15; 26(4):702-716.
Score: 0.016
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Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ. Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases. Hepatol Commun. 2024 01 01; 8(1).
Score: 0.006
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Squires JE, Miethke AG, Valencia CA, Hawthorne K, Henn L, Van Hove JLK, Squires RH, Bove K, Horslen S, Kohli R, Molleston JP, Romero R, Alonso EM, Bezerra JA, Guthery SL, Hsu E, Karpen SJ, Loomes KM, Ng VL, Rosenthal P, Mysore K, Wang KS, Friederich MW, Magee JC, Sokol RJ. Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children. Hepatol Commun. 2023 06 01; 7(6).
Score: 0.006
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Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loa?c N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 09; 45(5):996-1012.
Score: 0.006
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Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. J Inherit Metab Dis. 2022 07; 45(4):734-747.
Score: 0.006
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Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 03; 43(3):305-315.
Score: 0.006
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Kripps KA, Friederich MW, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK. A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype. Mol Genet Metab. 2020 12; 131(4):398-404.
Score: 0.005
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Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK. The mitochondrial DNA variant m.9032T?>?C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion. 2020 11; 55:8-13.
Score: 0.005
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Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ?-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. J Inherit Metab Dis. 2019 05; 42(3):424-437.
Score: 0.005
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Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK, Coughlin CR. Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening. J Inherit Metab Dis. 2019 05; 42(3):565-574.
Score: 0.005
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V?gtle FN, Br?ndl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, K?c?kk?se C, Muhle H, J?hn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, M?ller FJ, Helbig I. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet. 2018 04 05; 102(4):557-573.
Score: 0.004
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Ol?hov? M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fr?sard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504.
Score: 0.004
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Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R. New insights into the phenotype of FARS2 deficiency. Mol Genet Metab. 2017 12; 122(4):172-181.
Score: 0.004
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Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JLK, Freeze HH, Abdenur JE. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 05; 34:84-90.
Score: 0.004
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Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med. 2016 Mar; 92:141-151.
Score: 0.004
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Bjoraker KJ, Swanson MA, Coughlin CR, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL. Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia. J Pediatr. 2016 Mar; 170:234-9.
Score: 0.004
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Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79.
Score: 0.003
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Coughlin CR, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug; 52(8):532-40.
Score: 0.003
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Chatfield KC, Coughlin CR, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar; 21:1-10.
Score: 0.003
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Baker PR, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR, Spector E, Wempe MF, Van Hove JL. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb; 137(Pt 2):366-79.
Score: 0.003
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Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. Mitochondrion. 2013 Nov; 13(6):656-61.
Score: 0.003
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Leehey MA, Squassoni CA, Friederich MW, Mills JB, Hagerman PJ. A noncanonical tertiary conformation of a human mitochondrial transfer RNA. Biochemistry. 1995 Dec 19; 34(50):16235-9.
Score: 0.001
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Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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