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Items: 1 to 50 of 250

1.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Péron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan JA, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page MJ, Boesch S, Wortmann SB, Kopajtich R, Stong N, Sperl W, Davis E, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.

J Clin Invest. 2019 Sep 24. pii: 128514. doi: 10.1172/JCI128514. [Epub ahead of print]

2.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW.

Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13.

PMID:
31204009
3.

The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.

Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H.

J Inherit Metab Dis. 2019 May 22. doi: 10.1002/jimd.12130. [Epub ahead of print] Review.

PMID:
31119744
4.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA.

Genet Med. 2019 May 16. doi: 10.1038/s41436-019-0532-z. [Epub ahead of print]

PMID:
31092906
5.

Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.

Wagner M, Berutti R, Lorenz-Depiereux B, Graf E, Eckstein G, Mayr JA, Meitinger T, Ahting U, Prokisch H, Strom TM, Wortmann SB.

J Inherit Metab Dis. 2019 Sep;42(5):909-917. doi: 10.1002/jimd.12109. Epub 2019 Jun 11.

PMID:
31059585
6.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M.

Hum Mutat. 2019 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18.

PMID:
31045291
7.

The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus.

Schlicht K, Nyczka P, Caliebe A, Freitag-Wolf S, Claringbould A, Franke L, Võsa U; BIOS Consortium, Kardia SLR, Smith JA, Zhao W, Gieger C, Peters A, Prokisch H, Strauch K; KORA Study Group, Baurecht H, Weidinger S, Rosenstiel P, Hütt MT, Knecht C, Szymczak S, Krawczak M.

Hum Genet. 2019 Apr;138(4):375-388. doi: 10.1007/s00439-019-01994-x. Epub 2019 Mar 9.

8.

Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues.

Eraslan B, Wang D, Gusic M, Prokisch H, Hallström BM, Uhlén M, Asplund A, Pontén F, Wieland T, Hopf T, Hahne H, Kuster B, Gagneur J.

Mol Syst Biol. 2019 Feb 18;15(2):e8513. doi: 10.15252/msb.20188513.

9.

Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.

Stalke A, Pfister ED, Baumann U, Eilers M, Schäffer V, Illig T, Auber B, Schlegelberger B, Brackmann R, Prokisch H, Krooss S, Bohne J, Skawran B.

Eur J Hum Genet. 2019 Jun;27(6):879-887. doi: 10.1038/s41431-019-0345-1. Epub 2019 Feb 5.

PMID:
30723317
10.

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure.

Kleine-Eggebrecht N, Staufner C, Kathemann S, Elgizouli M, Kopajtich R, Prokisch H, Lainka E.

Pediatrics. 2019 Feb;143(2). pii: e20181554. doi: 10.1542/peds.2018-1554.

PMID:
30705142
11.

Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances.

Timmers PR, Mounier N, Lall K, Fischer K, Ning Z, Feng X, Bretherick AD, Clark DW; eQTLGen Consortium, Agbessi M, Ahsan H, Alves I, Andiappan A, Awadalla P, Battle A, Bonder MJ, Boomsma D, Christiansen M, Claringbould A, Deelen P, van Dongen J, Esko T, Favé M, Franke L, Frayling T, Gharib SA, Gibson G, Hemani G, Jansen R, Kalnapenkis A, Kasela S, Kettunen J, Kim Y, Kirsten H, Kovacs P, Krohn K, Kronberg-Guzman J, Kukushkina V, Kutalik Z, Kähönen M, Lee B, Lehtimäki T, Loeffler M, Marigorta U, Metspalu A, van Meurs J, Milani L, Müller-Nurasyid M, Nauck M, Nivard M, Penninx B, Perola M, Pervjakova N, Pierce B, Powell J, Prokisch H, Psaty BM, Raitakari O, Ring S, Ripatti S, Rotzschke O, Ruëger S, Saha A, Scholz M, Schramm K, Seppälä I, Stumvoll M, Sullivan P, Teumer A, Thiery J, Tong L, Tönjes A, Verlouw J, Visscher PM, Võsa U, Völker U, Yaghootkar H, Yang J, Zeng B, Zhang F, Agbessi M, Ahsan H, Alves I, Andiappan A, Awadalla P, Battle A, Bonder MJ, Boomsma D, Christiansen M, Claringbould A, Deelen P, van Dongen J, Esko T, Favé M, Franke L, Frayling T, Gharib SA, Gibson G, Hemani G, Jansen R, Kalnapenkis A, Kasela S, Kettunen J, Kim Y, Kirsten H, Kovacs P, Krohn K, Kronberg-Guzman J, Kukushkina V, Kutalik Z, Kähönen M, Lee B, Lehtimäki T, Loeffler M, Marigorta U, Metspalu A, van Meurs J, Milani L, Müller-Nurasyid M, Nauck M, Nivard M, Penninx B, Perola M, Pervjakova N, Pierce B, Powell J, Prokisch H, Psaty BM, Raitakari O, Ring S, Ripatti S, Rotzschke O, Ruëger S, Saha A, Scholz M, Schramm K, Seppälä I, Stumvoll M, Sullivan P, Teumer A, Thiery J, Tong L, Tönjes A, Verlouw J, Visscher PM, Võsa U, Völker U, Yaghootkar H, Yang J, Zeng B, Zhang F, Shen X, Esko T, Kutalik Z, Wilson JF, Joshi PK.

Elife. 2019 Jan 15;8. pii: e39856. doi: 10.7554/eLife.39856.

12.

Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction.

Ward-Caviness CK, Agha G, Chen BH, Pfeiffer L, Wilson R, Wolf P, Gieger C, Schwartz J, Vokonas PS, Hou L, Just AC, Bandinelli S, Hernandez DG, Singleton AB, Prokisch H, Meitinger T, Kastenmüller G, Ferrucci L, Baccarelli AA, Waldenberger M, Peters A.

Clin Epigenetics. 2018 Dec 27;10(1):161. doi: 10.1186/s13148-018-0588-7.

13.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.

PMID:
30576410
14.

OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.

Brechtmann F, Mertes C, Matusevičiūtė A, Yépez VA, Avsec Ž, Herzog M, Bader DM, Prokisch H, Gagneur J.

Am J Hum Genet. 2018 Dec 6;103(6):907-917. doi: 10.1016/j.ajhg.2018.10.025. Epub 2018 Nov 29.

15.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB.

Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.

16.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW.

Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20.

17.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM.

J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17.

PMID:
30120216
18.

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.

Kovacs-Nagy R, Morin G, Nouri MA, Brandau O, Saadi NW, Nouri MA, van den Broek F, Prokisch H, Mayr JA, Wortmann SB.

Neuropediatrics. 2018 Dec;49(6):373-378. doi: 10.1055/s-0038-1667345. Epub 2018 Aug 16.

PMID:
30114719
19.

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.

Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1.

20.

DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis.

Ward-Caviness CK, Huffman JE, Everett K, Germain M, van Dongen J, Hill WD, Jhun MA, Brody JA, Ghanbari M, Du L, Roetker NS, de Vries PS, Waldenberger M, Gieger C, Wolf P, Prokisch H, Koenig W, O'Donnell CJ, Levy D, Liu C, Truong V, Wells PS, Trégouët DA, Tang W, Morrison AC, Boerwinkle E, Wiggins KL, McKnight B, Guo X, Psaty BM, Sotoodenia N, Boomsma DI, Willemsen G, Ligthart L, Deary IJ, Zhao W, Ware EB, Kardia SLR, Van Meurs JBJ, Uitterlinden AG, Franco OH, Eriksson P, Franco-Cereceda A, Pankow JS, Johnson AD, Gagnon F, Morange PE, de Geus EJC, Starr JM, Smith JA, Dehghan A, Björck HM, Smith NL, Peters A.

Blood. 2018 Oct 25;132(17):1842-1850. doi: 10.1182/blood-2018-02-831347. Epub 2018 Jul 24. Erratum in: Blood. 2019 Jul 11;134(2):218.

PMID:
30042098
21.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

22.

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.

Yépez VA, Kremer LS, Iuso A, Gusic M, Kopajtich R, Koňaříková E, Nadel A, Wachutka L, Prokisch H, Gagneur J.

PLoS One. 2018 Jul 11;13(7):e0199938. doi: 10.1371/journal.pone.0199938. eCollection 2018.

23.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P.

Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006.

24.

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.

Stenton SL, Prokisch H.

Essays Biochem. 2018 Jul 20;62(3):399-408. doi: 10.1042/EBC20170110. Print 2018 Jul 20. Review.

PMID:
29950319
25.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J.

Neuropediatrics. 2018 Oct;49(5):330-338. doi: 10.1055/s-0038-1661396. Epub 2018 Jun 25.

PMID:
29940663
26.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.

Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB.

JIMD Rep. 2019;44:1-7. doi: 10.1007/8904_2018_115. Epub 2018 Jun 20.

27.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y.

Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10.

28.

Severe ichthyosis in MPDU1-CDG.

Thiel C, Wortmann S, Riedhammer K, Alhaddad B, Mayatepek E, Prokisch H, Distelmaier F.

J Inherit Metab Dis. 2018 Nov;41(6):1293-1294. doi: 10.1007/s10545-018-0189-9. Epub 2018 May 2.

PMID:
29721919
29.

Association of Methylation Signals With Incident Coronary Heart Disease in an Epigenome-Wide Assessment of Circulating Tumor Necrosis Factor α.

Aslibekyan S, Agha G, Colicino E, Do AN, Lahti J, Ligthart S, Marioni RE, Marzi C, Mendelson MM, Tanaka T, Wielscher M, Absher DM, Ferrucci L, Franco OH, Gieger C, Grallert H, Hernandez D, Huan T, Iurato S, Joehanes R, Just AC, Kunze S, Lin H, Liu C, Meigs JB, van Meurs JBJ, Moore AZ, Peters A, Prokisch H, Räikkönen K, Rathmann W, Roden M, Schramm K, Schwartz JD, Starr JM, Uitterlinden AG, Vokonas P, Waldenberger M, Yao C, Zhi D, Baccarelli AA, Bandinelli S, Deary IJ, Dehghan A, Eriksson J, Herder C, Jarvelin MR, Levy D, Arnett DK.

JAMA Cardiol. 2018 Jun 1;3(6):463-472. doi: 10.1001/jamacardio.2018.0510. Erratum in: JAMA Cardiol. 2018 Jun 1;3(6):505.

30.

Recessive mutations in >VPS13D cause childhood onset movement disorders.

Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM.

Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10.

PMID:
29518281
31.

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA.

Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8.

32.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C.

Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8.

33.

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.

Kremer LS, Wortmann SB, Prokisch H.

J Inherit Metab Dis. 2018 May;41(3):525-532. doi: 10.1007/s10545-017-0133-4. Epub 2018 Jan 25.

34.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

35.

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.

36.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

37.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

38.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

Glasgow RIC, Thompson K, Barbosa IA, He L, Alston CL, Deshpande C, Simpson MA, Morris AAM, Neu A, Löbel U, Hall J, Prokisch H, Haack TB, Hempel M, McFarland R, Taylor RW.

Neurogenetics. 2017 Dec;18(4):227-235. doi: 10.1007/s10048-017-0526-4. Epub 2017 Oct 26.

39.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

40.

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
41.

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Wagner M, Gusic M, Günthner R, Alhaddad B, Kovacs-Nagy R, Makowski C, Baumeister F, Strom T, Meitinger T, Prokisch H, Wortmann SB.

Neuropediatrics. 2018 Feb;49(1):59-62. doi: 10.1055/s-0037-1606370. Epub 2017 Sep 15.

PMID:
28915517
42.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, V Spronsen F, Derks TG, Veenstra-Knol HE, Mayr JA, Rötig A, Tarnopolsky M, Prokisch H, Rodenburg RJ.

Hum Mutat. 2017 Dec;38(12):1786-1795. doi: 10.1002/humu.23340. Epub 2017 Oct 6.

PMID:
28905505
43.

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077.

PMID:
28863407
44.

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA.

Oxid Med Cell Longev. 2017;2017:7202589. doi: 10.1155/2017/7202589. Epub 2017 Jul 19.

45.

Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure.

Zeller T, Schurmann C, Schramm K, Müller C, Kwon S, Wild PS, Teumer A, Herrington D, Schillert A, Iacoviello L, Kratzer A, Jagodzinski A, Karakas M, Ding J, Neumann JT, Kuulasmaa K, Gieger C, Kacprowski T, Schnabel RB, Roden M, Wahl S, Rotter JI, Ojeda F, Carstensen-Kirberg M, Tregouet DA, Dörr M, Meitinger T, Lackner KJ, Wolf P, Felix SB, Landmesser U, Costanzo S, Ziegler A, Liu Y, Völker U, Palmas W, Prokisch H, Guo X, Herder C, Blankenberg S, Homuth G.

Hypertension. 2017 Oct;70(4):743-750. doi: 10.1161/HYPERTENSIONAHA.117.09458. Epub 2017 Aug 7.

46.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P.

Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27.

47.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R.

Mitochondrion. 2017 Nov;37:55-61. doi: 10.1016/j.mito.2017.07.001. Epub 2017 Jul 8.

PMID:
28694194
48.

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappatà S, Barone P, Prokisch H, Romito L, Tiranti V.

Neurogenetics. 2017 Jul;18(3):175-178. doi: 10.1007/s10048-017-0518-4. Epub 2017 Jun 29.

PMID:
28664294
49.

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H.

Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.

50.

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W.

Neuropediatrics. 2017 Aug;48(4):309-314. doi: 10.1055/s-0037-1603776. Epub 2017 Jun 9. Review. No abstract available.

PMID:
28599323

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