Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 94

1.

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group.

Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

2.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F.

Am J Hum Genet. 2020 Feb 6;106(2):246-255. doi: 10.1016/j.ajhg.2020.01.002. Epub 2020 Jan 30.

PMID:
32004447
3.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

Fagerberg CR, Taylor A, Distelmaier F, Schrøder HD, Kibæk M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbøl EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M.

Brain. 2020 Jan 1;143(1):94-111. doi: 10.1093/brain/awz376.

PMID:
31855247
4.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D.

Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25.

PMID:
31761904
5.

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R.

Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326.

PMID:
31688942
6.

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.

Baertling F, Wagner M, Brunet T, Sabir H, Wieczorek D, Meitinger T, Meissner T, Distelmaier F.

Genet Med. 2020 Mar;22(3):654-655. doi: 10.1038/s41436-019-0677-9. Epub 2019 Oct 22. No abstract available.

PMID:
31641285
7.

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

Krenn M, Knaus A, Westphal DS, Wortmann SB, Polster T, Woermann FG, Karenfort M, Mayatepek E, Meitinger T, Wagner M, Distelmaier F.

Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May.

8.

Bain type of X-linked syndromic mental retardation in boys.

Harmsen S, Buchert R, Mayatepek E, Haack TB, Distelmaier F.

Clin Genet. 2019 Jun;95(6):734-735. doi: 10.1111/cge.13524. Epub 2019 Mar 18.

PMID:
30887513
9.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P.

Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.

10.

UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.

Jachimowicz RD, Beleggia F, Isensee J, Velpula BB, Goergens J, Bustos MA, Doll MA, Shenoy A, Checa-Rodriguez C, Wiederstein JL, Baranes-Bachar K, Bartenhagen C, Hertwig F, Teper N, Nishi T, Schmitt A, Distelmaier F, Lüdecke HJ, Albrecht B, Krüger M, Schumacher B, Geiger T, Hoon DSB, Huertas P, Fischer M, Hucho T, Peifer M, Ziv Y, Reinhardt HC, Wieczorek D, Shiloh Y.

Cell. 2019 Jan 24;176(3):505-519.e22. doi: 10.1016/j.cell.2018.11.024. Epub 2019 Jan 3.

11.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

12.

Challenges of palliative care in children with inborn metabolic diseases.

Hoell JI, Warfsmann J, Distelmaier F, Borkhardt A, Janßen G, Kuhlen M.

Orphanet J Rare Dis. 2018 Jul 9;13(1):112. doi: 10.1186/s13023-018-0868-5.

13.

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
14.

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack T, Distelmaier F.

Klin Padiatr. 2018 Sep;230(5):281-283. doi: 10.1055/a-0605-3659. Epub 2018 Jun 18. No abstract available.

PMID:
29913539
15.

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
16.

Blue Diaper Syndrome and PCSK1 Mutations.

Distelmaier F, Herebian D, Atasever C, Beck-Woedl S, Mayatepek E, Strom TM, Haack TB.

Pediatrics. 2018 Apr;141(Suppl 5):S501-S505. doi: 10.1542/peds.2017-0548.

17.

4-Hydroxybenzoic acid for multiple system atrophy?

Distelmaier F.

Parkinsonism Relat Disord. 2018 May;50:119-120. doi: 10.1016/j.parkreldis.2018.01.019. Epub 2018 Feb 6.

PMID:
29429647
18.

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Distelmaier F, Janssen MCH, Rodenburg RJT, Smeitink JAM, Nijtmans LGJ.

J Pediatr. 2018 May;196:309-313.e3. doi: 10.1016/j.jpeds.2017.12.043. Epub 2018 Feb 13.

PMID:
29395179
19.

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency.

Herebian D, Seibt A, Smits SHJ, Rodenburg RJ, Mayatepek E, Distelmaier F.

Ann Clin Transl Neurol. 2017 Oct 17;4(12):902-908. doi: 10.1002/acn3.486. eCollection 2017 Dec.

20.

Bypassing human CoQ10 deficiency.

Herebian D, López LC, Distelmaier F.

Mol Genet Metab. 2018 Mar;123(3):289-291. doi: 10.1016/j.ymgme.2017.12.008. Epub 2017 Dec 9.

PMID:
29246431
21.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

Pronicka E, Ropacka-Lesiak M, Trubicka J, Pajdowska M, Linke M, Ostergaard E, Saunders C, Horsch S, van Karnebeek C, Yaplito-Lee J, Distelmaier F, Õunap K, Rahman S, Castelle M, Kelleher J, Baris S, Iwanicka-Pronicka K, Steward CG, Ciara E, Wortmann SB; Additional individual contributors.

J Inherit Metab Dis. 2017 Nov;40(6):853-860. doi: 10.1007/s10545-017-0057-z. Epub 2017 Jul 7.

PMID:
28687938
22.

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F.

Stem Cell Res Ther. 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7.

23.

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F.

Eur J Hum Genet. 2017 Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14.

24.

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.

25.

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Herebian D, Seibt A, Smits SHJ, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F.

Mol Genet Metab. 2017 Jul;121(3):216-223. doi: 10.1016/j.ymgme.2017.05.012. Epub 2017 May 20.

PMID:
28552678
26.

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, Küchler A, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Lüdecke HJ, Wieczorek D.

Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.

27.

Paraneoplastic limbic encephalitis with SOX1 and PCA2 antibodies and relapsing neurological symptoms in an adolescent with Hodgkin lymphoma.

Kunstreich M, Kreth JH, Oommen PT, Schaper J, Karenfort M, Aktas O, Tibussek D, Distelmaier F, Borkhardt A, Kuhlen M.

Eur J Paediatr Neurol. 2017 Jul;21(4):661-665. doi: 10.1016/j.ejpn.2017.03.005. Epub 2017 Mar 27.

PMID:
28389060
28.

CAD mutations and uridine-responsive epileptic encephalopathy.

Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB.

Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21.

PMID:
28007989
29.

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H.

Brain. 2017 Feb;140(2):e11. doi: 10.1093/brain/aww303. Epub 2016 Dec 19. No abstract available.

PMID:
27993888
30.

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG.

Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11.

PMID:
27986404
31.

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

Luna-Sánchez M, Hidalgo-Gutiérrez A, Hildebrandt TM, Chaves-Serrano J, Barriocanal-Casado E, Santos-Fandila Á, Romero M, Sayed RK, Duarte J, Prokisch H, Schuelke M, Distelmaier F, Escames G, Acuña-Castroviejo D, López LC.

EMBO Mol Med. 2017 Jan;9(1):78-95. doi: 10.15252/emmm.201606345.

32.

Probable pseudotumor cerebri complex in 25 children. Further support of a concept.

Tibussek D, Distelmaier F, Karenfort M, Harmsen S, Klee D, Mayatepek E.

Eur J Paediatr Neurol. 2017 Mar;21(2):280-285. doi: 10.1016/j.ejpn.2016.10.004. Epub 2016 Oct 27.

PMID:
27825557
33.

The many faces of paediatric mitochondrial disease on neuroimaging.

Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F.

Childs Nerv Syst. 2016 Nov;32(11):2077-2083. Epub 2016 Jul 23. Review.

PMID:
27449766
34.

More on Biotin Treatment Mimicking Graves' Disease.

Kummer S, Hermsen D, Distelmaier F.

N Engl J Med. 2016 Oct 27;375(17):1699. doi: 10.1056/NEJMc1611875. No abstract available.

PMID:
27783907
35.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H.

Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8.

36.

Biotin Treatment Mimicking Graves' Disease.

Kummer S, Hermsen D, Distelmaier F.

N Engl J Med. 2016 Aug 18;375(7):704-6. doi: 10.1056/NEJMc1602096. No abstract available.

PMID:
27532849
37.

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F.

Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8.

PMID:
27502409
38.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB.

Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21.

39.

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.

Metab Brain Dis. 2016 Jun;31(3):717-21. doi: 10.1007/s11011-016-9793-2. Epub 2016 Jan 16.

PMID:
26780086
40.

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.

Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F.

Brain. 2016 Feb;139(Pt 2):346-54. doi: 10.1093/brain/awv350. Epub 2015 Dec 1.

PMID:
26626369
41.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.

J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.

PMID:
26541327
42.

Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis.

van den Ecker D, Hoffmann M, Müting G, Maglioni S, Herebian D, Mayatepek E, Ventura N, Distelmaier F.

Biochem Biophys Res Commun. 2015 Nov 13;467(2):389-94. doi: 10.1016/j.bbrc.2015.09.143. Epub 2015 Sep 30.

PMID:
26427876
43.

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.

Eur J Hum Genet. 2016 Mar;24(3):450-4. doi: 10.1038/ejhg.2015.133. Epub 2015 Jun 17.

44.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H.

Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11.

45.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R.

J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14.

46.

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.

Distelmaier F, Haack TB, Catarino CB, Gallenmüller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T.

Neurogenetics. 2015 Oct;16(4):319-23. doi: 10.1007/s10048-015-0444-2. Epub 2015 Mar 24.

PMID:
25797485
47.

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

Danhauser K, Smeitink JA, Freisinger P, Sperl W, Sabir H, Hadzik B, Mayatepek E, Morava E, Distelmaier F.

J Inherit Metab Dis. 2015 May;38(3):467-75. doi: 10.1007/s10545-014-9796-2. Epub 2015 Feb 17. Review.

PMID:
25687154
48.

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

Baertling F, Haack TB, Rodenburg RJ, Schaper J, Seibt A, Strom TM, Meitinger T, Mayatepek E, Hadzik B, Selcan G, Prokisch H, Distelmaier F.

Neurogenetics. 2015 Jul;16(3):237-40. doi: 10.1007/s10048-015-0440-6. Epub 2015 Feb 10.

PMID:
25663021
49.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA.

Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.

50.

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

Distelmaier F, Valsecchi F, Liemburg-Apers DC, Lebiedzinska M, Rodenburg RJ, Heil S, Keijer J, Fransen J, Imamura H, Danhauser K, Seibt A, Viollet B, Gellerich FN, Smeitink JA, Wieckowski MR, Willems PH, Koopman WJ.

Biochim Biophys Acta. 2015 Mar;1852(3):529-40. doi: 10.1016/j.bbadis.2014.12.012. Epub 2014 Dec 20.

Supplemental Content

Loading ...
Support Center