Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 126

1.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW.

Neuromuscul Disord. 2019 Sep;29(9):693-697. doi: 10.1016/j.nmd.2019.08.005. Epub 2019 Aug 21.

2.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Aug 10. pii: S1090-3798(19)30027-3. doi: 10.1016/j.ejpn.2019.08.004. [Epub ahead of print]

PMID:
31481303
3.

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE.

Lancet Diabetes Endocrinol. 2019 Sep;7(9):695-706. doi: 10.1016/S2213-8587(19)30155-X. Epub 2019 Jul 31.

PMID:
31377265
4.

Differential efficacy of non-invasive vagus nerve stimulation for the acute treatment of episodic and chronic cluster headache: A meta-analysis.

de Coo IF, Marin JC, Silberstein SD, Friedman DI, Gaul C, McClure CK, Tyagi A, Liebler E, Tepper SJ, Ferrari MD, Goadsby PJ.

Cephalalgia. 2019 Jul;39(8):967-977. doi: 10.1177/0333102419856607. Epub 2019 Jun 10.

5.

Chronobiology and Sleep in Cluster Headache.

de Coo IF, van Oosterhout WPJ, Wilbrink LA, van Zwet EW, Ferrari MD, Fronczek R.

Headache. 2019 Jul;59(7):1032-1041. doi: 10.1111/head.13567. Epub 2019 May 31.

6.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS.

Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Erratum in: Ann Clin Transl Neurol. 2019 Apr 17;6(4):821.

7.

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS.

Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31.

PMID:
30391508
8.

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt SCEH, Gottschalk RWH, Calis CM, Stassen APM, de Koning B, Mulder-Den Hartog ENM, Schoonderwoerd K, Fuchs SA, Hilhorst-Hofstee Y, de Visser M, Vanoevelen J, Szklarczyk R, Gerards M, de Coo IFM, Hellebrekers DMEI, Smeets HJM.

Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018.

9.

Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice.

Yadak R, Boot MV, van Til NP, Cazals-Hatem D, Finkenstedt A, Bogaerts E, de Coo IF, Bugiani M.

BMC Gastroenterol. 2018 Oct 19;18(1):149. doi: 10.1186/s12876-018-0881-0.

10.

Increased use of illicit drugs in a Dutch cluster headache population.

de Coo IF, Naber WC, Wilbrink LA, Haan J, Ferrari MD, Fronczek R.

Cephalalgia. 2019 Apr;39(5):626-634. doi: 10.1177/0333102418804160. Epub 2018 Oct 5.

11.

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.

12.

Aura in Cluster Headache: A Cross-Sectional Study.

de Coo IF, Wilbrink LA, Ie GD, Haan J, Ferrari MD.

Headache. 2018 Sep;58(8):1203-1210. doi: 10.1111/head.13344. Epub 2018 Jun 22.

13.

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.

Haast RAM, Ivanov D, IJsselstein RJT, Sallevelt SCEH, Jansen JFA, Smeets HJM, de Coo IFM, Formisano E, Uludağ K.

Neuroimage Clin. 2018 Jan 31;18:231-244. doi: 10.1016/j.nicl.2018.01.017. eCollection 2018.

14.

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

Yadak R, Cabrera-Pérez R, Torres-Torronteras J, Bugiani M, Haeck JC, Huston MW, Bogaerts E, Goffart S, Jacobs EH, Stok M, Leonardelli L, Biasco L, Verdijk RM, Bernsen MR, Ruijter G, Martí R, Wagemaker G, van Til NP, de Coo IFM.

Mol Ther Methods Clin Dev. 2018 Jan 8;8:152-165. doi: 10.1016/j.omtm.2018.01.001. eCollection 2018 Mar 16.

15.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM.

Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13.

16.

Non-invasive vagus nerve stimulation for the acute treatment of episodic and chronic cluster headache: A randomized, double-blind, sham-controlled ACT2 study.

Goadsby PJ, de Coo IF, Silver N, Tyagi A, Ahmed F, Gaul C, Jensen RH, Diener HC, Solbach K, Straube A, Liebler E, Marin JC, Ferrari MD; ACT2 Study Group.

Cephalalgia. 2018 Apr;38(5):959-969. doi: 10.1177/0333102417744362. Epub 2017 Dec 12.

17.

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lönnqvist T, Bindoff LA, Tulinius M, Darin N.

J Med Genet. 2018 Jan;55(1):21-27. doi: 10.1136/jmedgenet-2017-104891. Epub 2017 Nov 3.

PMID:
29101127
18.

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Theunissen TEJ, Gerards M, Hellebrekers DMEI, van Tienen FH, Kamps R, Sallevelt SCEH, Hartog ENMM, Scholte HR, Verdijk RM, Schoonderwoerd K, de Coo IFM, Szklarczyk R, Smeets HJM.

Front Mol Neurosci. 2017 Oct 18;10:336. doi: 10.3389/fnmol.2017.00336. eCollection 2017.

19.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P.

J Neuroophthalmol. 2017 Dec;37(4):371-381. doi: 10.1097/WNO.0000000000000570.

PMID:
28991104
20.

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B; Thiamine Deficiency Study Group.

Ann Neurol. 2017 Sep;82(3):317-330. doi: 10.1002/ana.24998. Epub 2017 Aug 30.

PMID:
28856750
21.

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug.

22.

Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.

van Vliet P, Berden AE, van Schie MKM, Bakker JA, Heringhaus C, de Coo IFM, Langeveld M, Schroijen MA, Arbous MS.

JIMD Rep. 2018;38:101-105. doi: 10.1007/8904_2017_37. Epub 2017 Jul 7.

23.

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Fung CW, Chan SH, Wong VC, Hellebrekers DME, de Coo IFM, Smeitink JAM, Rodenburg RJT, Nijtmans LGJ.

Clin Genet. 2018 Jan;93(1):111-118. doi: 10.1111/cge.13089. Epub 2017 Nov 21.

PMID:
28671271
24.

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017 Aug 1;13(8):e1006923.

25.

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Yadak R, Sillevis Smitt P, van Gisbergen MW, van Til NP, de Coo IF.

Front Cell Neurosci. 2017 Feb 15;11:31. doi: 10.3389/fncel.2017.00031. eCollection 2017. Review.

26.

Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy.

Nabben M, Schmitz JPJ, Ciapaite J, le Clercq CMP, van Riel NA, Haak HR, Nicolay K, de Coo IFM, Smeets H, Praet SF, van Loon LJ, Prompers JJ.

Am J Physiol Regul Integr Comp Physiol. 2017 May 1;312(5):R689-R701. doi: 10.1152/ajpregu.00264.2016. Epub 2017 Feb 8.

27.

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Theunissen TEJ, Sallevelt SCEH, Hellebrekers DMEI, de Koning B, Hendrickx ATM, van den Bosch BJC, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog ENM, de Coo IFM, Smeets HJM.

J Pediatr. 2017 Mar;182:371-374.e2. doi: 10.1016/j.jpeds.2016.12.032. Epub 2017 Jan 9.

PMID:
28081892
28.

A Case Report About Cluster-Tic Syndrome Due to Venous Compression of the Trigeminal Nerve.

de Coo I, van Dijk JM, Metzemaekers JD, Haan J.

Headache. 2017 Apr;57(4):654-657. doi: 10.1111/head.12990. Epub 2016 Dec 7.

PMID:
27925184
29.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ.

Front Neurol. 2016 Nov 16;7:203. eCollection 2016.

30.

De novo mtDNA point mutations are common and have a low recurrence risk.

Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ.

J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22.

31.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

32.

Long Lasting Impairment of Taste and Smell as Side Effect of Lithium Carbonate in a Cluster Headache Patient.

de Coo IF, Haan J.

Headache. 2016 Jul;56(7):1201-3. doi: 10.1111/head.12872. Epub 2016 Jun 17.

PMID:
27317012
33.

International Paediatric Mitochondrial Disease Scale.

Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM.

J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. Erratum in: J Inherit Metab Dis. 2017 May;40(3):463.

34.

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Nguyen M, Boesten I, Hellebrekers DM, Mulder-den Hartog NM, de Coo IF, Smeets HJ, Gerards M.

Clin Genet. 2017 Jan;91(1):121-125. doi: 10.1111/cge.12774. Epub 2016 Apr 8.

PMID:
26951855
35.

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Schaaf GJ, van Gestel TJ, Brusse E, Verdijk RM, de Coo IF, van Doorn PA, van der Ploeg AT, Pijnappel WW.

Acta Neuropathol Commun. 2015 Oct 28;3:65. doi: 10.1186/s40478-015-0243-x.

36.

Smad1/5/8 are myogenic regulators of murine and human mesoangioblasts.

Costamagna D, Quattrocelli M, van Tienen F, Umans L, de Coo IF, Zwijsen A, Huylebroeck D, Sampaolesi M.

J Mol Cell Biol. 2016 Feb;8(1):73-87. doi: 10.1093/jmcb/mjv059. Epub 2015 Oct 8.

37.

Evaluation of the new ICHD-III beta cluster headache criteria.

de Coo IF, Wilbrink LA, Haan J, Ferrari MD, Terwindt GM.

Cephalalgia. 2016 May;36(6):547-51. doi: 10.1177/0333102415607856. Epub 2015 Sep 22.

PMID:
26395893
38.

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

Smeets HJ, Sallevelt SC, Dreesen JC, de Die-Smulders CE, de Coo IF.

Ann N Y Acad Sci. 2015 Sep;1350:29-36. doi: 10.1111/nyas.12866. Epub 2015 Aug 27. Review.

PMID:
26312584
39.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M.

Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10.

40.

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.

Nguyen M, Boesten I, Hellebrekers DM, Vanoevelen J, Kamps R, de Koning B, de Coo IF, Gerards M, Smeets HJ.

Eur J Hum Genet. 2016 Apr;24(4):619-22. doi: 10.1038/ejhg.2015.158. Epub 2015 Jul 22.

41.

Symptomatic Trigeminal Autonomic Cephalalgias.

de Coo IF, Wilbrink LA, Haan J.

Curr Pain Headache Rep. 2015 Aug;19(8):39. doi: 10.1007/s11916-015-0514-z. Review.

42.

How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models.

van Gisbergen MW, Voets AM, Starmans MH, de Coo IF, Yadak R, Hoffmann RF, Boutros PC, Smeets HJ, Dubois L, Lambin P.

Mutat Res Rev Mutat Res. 2015 Apr-Jun;764:16-30. doi: 10.1016/j.mrrev.2015.01.001. Epub 2015 Jan 20. Review.

43.

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ.

Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11.

PMID:
25960145
44.

Effective occipital nerve stimulation during pregnancy in a cluster headache patient.

de Coo IF, Wilbrink LA, Haan J.

Cephalalgia. 2016 Jan;36(1):98-9. doi: 10.1177/0333102415580111. Epub 2015 Apr 1. No abstract available.

PMID:
25834272
45.

Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients.

Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman MA, Korsten A, De Coo IF, Chinnery PF, Klopstock T.

Orphanet J Rare Dis. 2014 Oct 23;9:158. doi: 10.1186/s13023-014-0158-9.

46.

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IF, Hoedemaekers YM, Dooijes D.

Eur J Hum Genet. 2015 Jul;23(7):922-8. doi: 10.1038/ejhg.2014.211. Epub 2014 Oct 22.

47.

How general practitioners treat migraine in children--evaluation of a headache guideline.

de Coo IF, de Jong G, Zielman R, van den Berg JS.

Headache. 2014 Jun;54(6):1026-34. doi: 10.1111/head.12345. Epub 2014 Apr 25.

PMID:
24766318
48.

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N.

Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52.

49.

Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.

van den Bergen JC, Ginjaar HB, van Essen AJ, Pangalila R, de Groot IJ, Wijkstra PJ, Zijnen MP, Cobben NA, Kampelmacher MJ, Wokke BH, de Coo IF, Fock JM, Horemans AM, van Tol M, Vroom E, Rijlaarsdam ME, Straathof CS, Niks EH, Verschuuren JJ.

J Neuromuscul Dis. 2014;1(1):99-109.

PMID:
27858664
50.

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS.

Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19.

PMID:
23873601

Supplemental Content

Loading ...
Support Center