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Year | Number of Results |
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2021 | 2 |
2022 | 3 |
2023 | 4 |
2024 | 0 |
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Page 1
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20.
Ann Neurol. 2022.
PMID: 34954817
Free PMC article.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK.
Arribas-Carreira L, et al. Among authors: achleitner mt.
Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246.
Hum Mol Genet. 2023.
PMID: 36190515
Free PMC article.
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Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Oswald SL, Steinbrücker K, Achleitner MT, Göschl E, Bittner RE, Schmidt WM, Tiefenthaler E, Hammerl E, Eisl A, Mayr D, Mayr JA, Wortmann SB.
Oswald SL, et al. Among authors: achleitner mt.
Neuropediatrics. 2023 Oct;54(5):351-355. doi: 10.1055/a-2008-4230. Epub 2023 Jan 5.
Neuropediatrics. 2023.
PMID: 36603837
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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A.
Schänzer A, et al. Among authors: achleitner mt.
Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. Epub 2021 Jun 5.
Ann Neurol. 2021.
PMID: 33999436
Free PMC article.
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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
Achleitner MT, Jans JJM, Ebner L, Spenger J, Konstantopoulou V, Feichtinger RG, Brugger K, Mayr D, Wevers RA, Thiel C, Wortmann SB, Mayr JA.
Achleitner MT, et al.
Metabolites. 2023 Nov 10;13(11):1141. doi: 10.3390/metabo13111141.
Metabolites. 2023.
PMID: 37999237
Free PMC article.
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Guimier A, et al. Among authors: achleitner mt.
Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002.
Genet Med. 2022.
PMID: 35394429
Free article.
No abstract available.
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Guimier A, et al. Among authors: achleitner mt.
Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16.
Genet Med. 2021.
PMID: 34400813
Free PMC article.
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A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.
Astner-Rohracher A, Mauritz M, Leitinger M, Rossini F, Kalss G, Neuray C, Retter E, Wortmann SB, Achleitner MT, Mayr JA, Trinka E.
Astner-Rohracher A, et al. Among authors: achleitner mt.
Front Neurol. 2023 Jan 11;13:1063733. doi: 10.3389/fneur.2022.1063733. eCollection 2022.
Front Neurol. 2023.
PMID: 36712458
Free PMC article.
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