Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 109

1.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ.

Hum Mutat. 2020 Jan 3. doi: 10.1002/humu.23975. [Epub ahead of print]

PMID:
31898846
2.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT.

Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.

PMID:
31834374
3.

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant.

Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J.

J Pediatr Genet. 2019 Dec;8(4):222-225. doi: 10.1055/s-0039-1685501. Epub 2019 Apr 20.

PMID:
31687261
4.

Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease.

Stumpf SK, Berghoff SA, Trevisiol A, Spieth L, Düking T, Schneider LV, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave KA, Saher G.

Acta Neuropathol. 2019 Oct;138(4):673-674. doi: 10.1007/s00401-019-02064-2. Epub 2019 Sep 3.

5.

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C.

Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8.

PMID:
31067009
6.

Exome Sequencing in Children.

Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M.

Dtsch Arztebl Int. 2019 Mar 22;116(12):197-204. doi: 10.3238/arztebl.2019.0197.

7.

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease.

Stumpf SK, Berghoff SA, Trevisiol A, Spieth L, Düking T, Schneider LV, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave KA, Saher G.

Acta Neuropathol. 2019 Jul;138(1):147-161. doi: 10.1007/s00401-019-01985-2. Epub 2019 Mar 27. Erratum in: Acta Neuropathol. 2019 Sep 3;:.

8.

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.

Tunc S, Denecke J, Olschewski L, Bäumer T, Münchau A, Lessel D, Lohmann K.

J Neurol Sci. 2019 Jan 15;396:199-201. doi: 10.1016/j.jns.2018.11.024. Epub 2018 Nov 22. No abstract available.

PMID:
30502610
9.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms FL, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K.

Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005.

10.

Predominant Golgi Residency of the Plant K/HDEL Receptor Is Essential for Its Function in Mediating ER Retention.

Silva-Alvim FAL, An J, Alvim JC, Foresti O, Grippa A, Pelgrom A, Adams TL, Hawes C, Denecke J.

Plant Cell. 2018 Sep;30(9):2174-2196. doi: 10.1105/tpc.18.00426. Epub 2018 Aug 2.

11.

Short-spored Subulicystidium (Trechisporales, Basidiomycota): high morphological diversity and only partly clear species boundaries.

Ordynets A, Scherf D, Pansegrau F, Denecke J, Lysenko L, Larsson KH, Langer E.

MycoKeys. 2018 Jun 27;(35):41-99. doi: 10.3897/mycokeys.35.25678. eCollection 2018.

12.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C.

Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173.

13.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.

Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer MA, Denecke J, Santer R.

Neurogenetics. 2018 Aug;19(3):151-156. doi: 10.1007/s10048-018-0549-5. Epub 2018 May 28.

PMID:
29808465
14.

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany.

Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J.

J Neuromuscul Dis. 2018;5(2):135-143. doi: 10.3233/JND-180315.

15.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ.

Am J Hum Genet. 2018 Jan 4;102(1):196. doi: 10.1016/j.ajhg.2017.12.016. No abstract available.

16.

[The Need for Psychosocial Support in Parents of Chronically Ill Children].

Morgenstern L, Wagner M, Denecke J, Grolle B, Johannsen J, Wegscheider K, Wiegand-Grefe S.

Prax Kinderpsychol Kinderpsychiatr. 2017 Nov;66(9):687-701. doi: 10.13109/prkk.2017.66.9.687. German.

PMID:
29111898
17.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J; DDD study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ.

Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014. Erratum in: Am J Hum Genet. 2018 Jan 4;102(1):196.

18.

Trafficking routes to the plant vacuole: connecting alternative and classical pathways.

Di Sansebastiano GP, Barozzi F, Piro G, Denecke J, de Marcos Lousa C.

J Exp Bot. 2017 Dec 18;69(1):79-90. doi: 10.1093/jxb/erx376. Review.

19.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.

Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195.

20.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C; University of Washington Center for Mendelian Genomics, Bamshad MJ, Lessel D.

Am J Med Genet A. 2017 Nov;173(11):3098-3103. doi: 10.1002/ajmg.a.38406. Epub 2017 Sep 8.

21.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Kloth K, Denecke J, Hempel M, Johannsen J, Strom TM, Kubisch C, Lessel D.

Eur J Med Genet. 2017 Sep;60(9):494-498. doi: 10.1016/j.ejmg.2017.07.001. Epub 2017 Jul 4.

PMID:
28687526
22.

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

Rolvien T, Butscheidt S, Jeschke A, Neu A, Denecke J, Kubisch C, Meisler MH, Pueschel K, Barvencik F, Yorgan T, Oheim R, Schinke T, Amling M.

Bone. 2017 Oct;103:136-143. doi: 10.1016/j.bone.2017.06.025. Epub 2017 Jul 1.

PMID:
28676440
23.

Management Strategies for CLN2 Disease.

Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A.

Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Review.

24.

Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.

25.

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

Johannsen J, Hempel M, Diehl T, Haack TB, Denecke J.

Pediatr Neonatol. 2017 Oct;58(5):458-459. doi: 10.1016/j.pedneo.2016.05.007. Epub 2016 Nov 22. No abstract available.

26.

Lysosomal and vacuolar sorting: not so different after all!

de Marcos Lousa C, Denecke J.

Biochem Soc Trans. 2016 Jun 15;44(3):891-7. doi: 10.1042/BST20160050. Review.

27.

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease.

Johannsen J, Nickel M, Schulz A, Denecke J.

Neuropediatrics. 2016 Jun;47(3):194-6. doi: 10.1055/s-0036-1579784. Epub 2016 Apr 4.

PMID:
27043294
28.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D.

Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003.

29.

Phenotypic and molecular insights into CASK-related disorders in males.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K.

Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3.

30.

Brainstem disconnection: two additional patients and expansion of the phenotype.

Poretti A, Denecke J, Miller DC, Schiffmann H, Buhk JH, Grange DK, Doherty D, Boltshauser E.

Neuropediatrics. 2015 Apr;46(2):139-44. doi: 10.1055/s-0034-1544127. Epub 2015 Feb 11.

PMID:
25671339
31.

Routes to and from the plasma membrane: bulk flow versus signal mediated endocytosis.

Gershlick DC, Lousa Cde M, Farmer L, Denecke J.

Plant Signal Behav. 2014;9(10):e972813. doi: 10.4161/15592316.2014.972813.

32.

Golgi-dependent transport of vacuolar sorting receptors is regulated by COPII, AP1, and AP4 protein complexes in tobacco.

Gershlick DC, Lousa Cde M, Foresti O, Lee AJ, Pereira EA, daSilva LL, Bottanelli F, Denecke J.

Plant Cell. 2014 Mar;26(3):1308-29. doi: 10.1105/tpc.113.122226. Epub 2014 Mar 18.

33.

Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique.

Denecke J.

Methods Mol Biol. 2013;992:383-6. doi: 10.1007/978-1-62703-339-8_31.

PMID:
23546731
34.

Synthesis of vesicle cargo determines amplitude of Ca(2+)-sensitive exocytosis.

Sutter JU, Denecke J, Thiel G.

Cell Calcium. 2012 Sep-Oct;52(3-4):283-8. doi: 10.1016/j.ceca.2012.05.011. Epub 2012 Jun 8.

PMID:
22683200
35.

Mechanisms and concepts paving the way towards a complete transport cycle of plant vacuolar sorting receptors.

De Marcos Lousa C, Gershlick DC, Denecke J.

Plant Cell. 2012 May;24(5):1714-32. doi: 10.1105/tpc.112.095679. Epub 2012 May 8. Review.

36.

SLO2, a mitochondrial pentatricopeptide repeat protein affecting several RNA editing sites, is required for energy metabolism.

Zhu Q, Dugardeyn J, Zhang C, Takenaka M, Kühn K, Craddock C, Smalle J, Karampelias M, Denecke J, Peters J, Gerats T, Brennicke A, Eastmond P, Meyer EH, Van Der Straeten D.

Plant J. 2012 Sep;71(5):836-49. doi: 10.1111/j.1365-313X.2012.05036.x. Epub 2012 Jun 25.

37.

Secretory pathway research: the more experimental systems the better.

Denecke J, Aniento F, Frigerio L, Hawes C, Hwang I, Mathur J, Neuhaus JM, Robinson DG.

Plant Cell. 2012 Apr;24(4):1316-26. doi: 10.1105/tpc.112.096362. Epub 2012 Apr 20. Review.

38.

Evidence for sequential action of Rab5 and Rab7 GTPases in prevacuolar organelle partitioning.

Bottanelli F, Gershlick DC, Denecke J.

Traffic. 2012 Feb;13(2):338-54. doi: 10.1111/j.1600-0854.2011.01303.x. Epub 2011 Nov 21.

39.

A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation.

Jones C, Denecke J, Sträter R, Stölting T, Schunicht Y, Zeuschner D, Klumperman J, Lefeber DJ, Spelten O, Zarbock A, Kelm S, Strenge K, Haslam SM, Lühn K, Stahl D, Gentile L, Schreiter T, Hilgard P, Beck-Sickinger AG, Marquardt T, Wild MK.

Am J Pathol. 2011 Oct;179(4):1969-77. doi: 10.1016/j.ajpath.2011.06.012. Epub 2011 Aug 22.

40.

Vacuolar transport in tobacco leaf epidermis cells involves a single route for soluble cargo and multiple routes for membrane cargo.

Bottanelli F, Foresti O, Hanton S, Denecke J.

Plant Cell. 2011 Aug;23(8):3007-25. doi: 10.1105/tpc.111.085480. Epub 2011 Aug 19.

41.

A recycling-defective vacuolar sorting receptor reveals an intermediate compartment situated between prevacuoles and vacuoles in tobacco.

Foresti O, Gershlick DC, Bottanelli F, Hummel E, Hawes C, Denecke J.

Plant Cell. 2010 Dec;22(12):3992-4008. doi: 10.1105/tpc.110.078436. Epub 2010 Dec 21.

42.

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.

Weber S, Landwehr C, Renkert M, Hoischen A, Wühl E, Denecke J, Radlwimmer B, Haffner D, Schaefer F, Weber RG.

Nephrol Dial Transplant. 2011 Jan;26(1):136-43. doi: 10.1093/ndt/gfq400. Epub 2010 Jul 5.

PMID:
20605837
43.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gürakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Müller F, Maher ER, Gissen P.

Nat Genet. 2010 Apr;42(4):303-12. doi: 10.1038/ng.538. Epub 2010 Feb 28. Erratum in: Nat Genet. 2011 Mar;43(3):277.

44.

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T.

Mol Genet Metab. 2009 Nov;98(3):305-9. doi: 10.1016/j.ymgme.2009.06.010. Epub 2009 Jun 24.

PMID:
19648040
45.

Biomarkers and diagnosis of congenital disorders of glycosylation.

Denecke J.

Expert Opin Med Diagn. 2009 Jul;3(4):395-409. doi: 10.1517/17530050902878023.

PMID:
23485208
46.

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H.

Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28.

PMID:
19561605
47.

Hypoglycosylation due to dolichol metabolism defects.

Denecke J, Kranz C.

Biochim Biophys Acta. 2009 Sep;1792(9):888-95. doi: 10.1016/j.bbadis.2009.01.013. Epub 2009 Feb 3. Review.

48.

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Denecke J, Marquardt T.

Biochim Biophys Acta. 2009 Sep;1792(9):915-20. doi: 10.1016/j.bbadis.2008.12.005. Epub 2008 Dec 25. Review.

49.

The syntaxins SYP31 and SYP81 control ER-Golgi trafficking in the plant secretory pathway.

Bubeck J, Scheuring D, Hummel E, Langhans M, Viotti C, Foresti O, Denecke J, Banfield DK, Robinson DG.

Traffic. 2008 Sep;9(10):1629-52. doi: 10.1111/j.1600-0854.2008.00803.x. Epub 2008 Aug 7.

50.

What is moving in the secretory pathway of plants?

Rojo E, Denecke J.

Plant Physiol. 2008 Aug;147(4):1493-503. doi: 10.1104/pp.108.124552. Review. No abstract available.

Supplemental Content

Loading ...
Support Center