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Items: 1 to 20 of 216

1.

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Čerkauskaitė A, Čerkauskienė R, Miglinas M, Laurinavičius A, Ding C, Rolfs A, Vencevičienė L, Barysienė J, Kazėnaitė E, Sadauskienė E.

Medicina (Kaunas). 2019 May 7;55(5). pii: E122. doi: 10.3390/medicina55050122.

2.

Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas.

Lukas J, Pospech J, Oppermann C, Hund C, Iwanov K, Pantoom S, Petters J, Frech M, Seemann S, Thiel FG, Modenbach JM, Bolsmann R, de Freitas Chama L, Kraatz F, El-Hage F, Gronbach M, Klein A, Müller R, Salloch S, Weiss FU, Simon P, Wagh P, Klemenz A, Krüger E, Mayerle J, Delcea M, Kragl U, Beller M, Rolfs A, Lerch MM, Sendler M.

Adv Med Sci. 2019 Apr 9;64(2):315-323. doi: 10.1016/j.advms.2019.03.004. [Epub ahead of print] Review.

PMID:
30978662
3.

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.

Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C.

Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3.

PMID:
30973967
4.

Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice.

Yang F, Guan Y, Feng X, Rolfs A, Schlüter H, Luo J.

Mol Brain. 2019 Mar 11;12(1):17. doi: 10.1186/s13041-019-0440-9.

5.

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC.

J Hum Genet. 2019 May;64(5):409-419. doi: 10.1038/s10038-019-0582-8. Epub 2019 Feb 28.

PMID:
30816285
6.

Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study.

Larsson SC, Traylor M, Burgess S, Boncoraglio GB, Jern C, Michaëlsson K, Markus HS; MEGASTROKE project of the International Stroke Genetics Consortium.

Neurology. 2019 Feb 26;92(9):e944-e950. doi: 10.1212/WNL.0000000000007001. Epub 2019 Jan 25.

7.

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.

Yüksel Z, Vogel F, Alhashem AM, Alanzi TSA, Tabarki B, Kampe K, Kandaswamy KK, Werber M, Bertoli-Avella AM, Beetz C, Rolfs A, Bauer P.

Clin Genet. 2019 May;95(5):631-633. doi: 10.1111/cge.13513. Epub 2019 Feb 21. No abstract available.

PMID:
30791088
8.

Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping.

Roller FC, Fuest S, Meyer M, Harth S, Gündüz D, Bauer P, Schneider C, Rolfs A, Krombach GA, Tanislav C.

Rofo. 2019 Feb 12. doi: 10.1055/a-0836-2723. [Epub ahead of print]

9.

Role of ANO3 mutations in dystonia: A large-scale mutational screening study.

Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K.

Parkinsonism Relat Disord. 2019 Jan 2. pii: S1353-8020(18)30564-9. doi: 10.1016/j.parkreldis.2018.12.030. [Epub ahead of print]

PMID:
30712998
10.

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Keyfi F, Abbaszadegan MR, Sankian M, Rolfs A, Orolicki S, Pournasrollah M, Alijanpour M, Varasteh A.

Mol Biol Rep. 2019 Feb;46(1):271-285. doi: 10.1007/s11033-018-4469-0. Epub 2019 Feb 2.

PMID:
30712249
11.

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA.

Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. No abstract available.

PMID:
30633340
12.

Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.

Al-Dewik N, Ben-Omran T, Zayed H, Trujillano D, Kishore S, Rolfs A, Yassin MA.

Gene. 2019 Mar 20;689:34-42. doi: 10.1016/j.gene.2018.12.009. Epub 2018 Dec 13.

PMID:
30553997
13.

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.

PMID:
30537300
14.

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

Franceschini N, Giambartolomei C, de Vries PS, Finan C, Bis JC, Huntley RP, Lovering RC, Tajuddin SM, Winkler TW, Graff M, Kavousi M, Dale C, Smith AV, Hofer E, van Leeuwen EM, Nolte IM, Lu L, Scholz M, Sargurupremraj M, Pitkänen N, Franzén O, Joshi PK, Noordam R, Marioni RE, Hwang SJ, Musani SK, Schminke U, Palmas W, Isaacs A, Correa A, Zonderman AB, Hofman A, Teumer A, Cox AJ, Uitterlinden AG, Wong A, Smit AJ, Newman AB, Britton A, Ruusalepp A, Sennblad B, Hedblad B, Pasaniuc B, Penninx BW, Langefeld CD, Wassel CL, Tzourio C, Fava C, Baldassarre D, O'Leary DH, Teupser D, Kuh D, Tremoli E, Mannarino E, Grossi E, Boerwinkle E, Schadt EE, Ingelsson E, Veglia F, Rivadeneira F, Beutner F, Chauhan G, Heiss G, Snieder H, Campbell H, Völzke H, Markus HS, Deary IJ, Jukema JW, de Graaf J, Price J, Pott J, Hopewell JC, Liang J, Thiery J, Engmann J, Gertow K, Rice K, Taylor KD, Dhana K, Kiemeney LALM, Lind L, Raffield LM, Launer LJ, Holdt LM, Dörr M, Dichgans M, Traylor M, Sitzer M, Kumari M, Kivimaki M, Nalls MA, Melander O, Raitakari O, Franco OH, Rueda-Ochoa OL, Roussos P, Whincup PH, Amouyel P, Giral P, Anugu P, Wong Q, Malik R, Rauramaa R, Burkhardt R, Hardy R, Schmidt R, de Mutsert R, Morris RW, Strawbridge RJ, Wannamethee SG, Hägg S, Shah S, McLachlan S, Trompet S, Seshadri S, Kurl S, Heckbert SR, Ring S, Harris TB, Lehtimäki T, Galesloot TE, Shah T, de Faire U, Plagnol V, Rosamond WD, Post W, Zhu X, Zhang X, Guo X, Saba Y; MEGASTROKE Consortium, Dehghan A, Seldenrijk A, Morrison AC, Hamsten A, Psaty BM, van Duijn CM, Lawlor DA, Mook-Kanamori DO, Bowden DW, Schmidt H, Wilson JF, Wilson JG, Rotter JI, Wardlaw JM, Deanfield J, Halcox J, Lyytikäinen LP, Loeffler M, Evans MK, Debette S, Humphries SE, Völker U, Gudnason V, Hingorani AD, Björkegren JLM, Casas JP, O'Donnell CJ.

Nat Commun. 2018 Dec 3;9(1):5141. doi: 10.1038/s41467-018-07340-5.

15.

Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.

Cole JW, Xu H, Ryan K, Jaworek T, Dueker N, McArdle P, Gaynor B, Cheng YC, O'Connell J, Bevan S, Malik R, Ahmed NU, Amouyel P, Anjum S, Bis JC, Crosslin D, Danesh J, Engelter ST, Fornage M, Frossard P, Gieger C, Giese AK, Grond-Ginsbach C, Ho WK, Holliday E, Hopewell J, Hussain M, Iqbal W, Jabeen S, Jannes J, Kamal A, Kamatani Y, Kanse S, Kloss M, Lathrop M, Leys D, Lindgren A, Longstreth WT Jr, Mahmood K, Meisinger C, Metso TM, Mosley T Jr, Müller-Nurasyid M, Norrving B, Parati E, Peters A, Pezzini A, Quereshi I, Rasheed A, Rauf A, Salam T, Shen J, Słowik A, Stanne T, Strauch K, Tatlisumak T, Thijs VN, Tiedt S, Traylor M, Waldenberger M, Walters M, Zhao W, Boncoraglio G, Debette S, Jern C, Levi C, Markus H, Meschia J, Rolfs A, Rothwell P, Saleheen D, Seshadri S, Sharma P, Sudlow C, Worrall B; METASTROKE Consortium of the ISGC; WTCCC-2 Consortium, Stine OC, Kittner SJ, Mitchell BD.

PLoS One. 2018 Nov 1;13(11):e0206554. doi: 10.1371/journal.pone.0206554. eCollection 2018.

16.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

PMID:
30167850
17.

Olfactory Performance as an Indicator for Protective Treatment Effects in an Animal Model of Neurodegeneration.

Meyer A, Gläser A, Bräuer AU, Wree A, Strotmann J, Rolfs A, Witt M.

Front Integr Neurosci. 2018 Aug 14;12:35. doi: 10.3389/fnint.2018.00035. eCollection 2018.

18.

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.

Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C.

Mov Disord. 2018 Jul;33(7):1108-1118. doi: 10.1002/mds.27441.

PMID:
30153385
19.

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.

Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A.

Genet Med. 2019 Jan;21(1):53-61. doi: 10.1038/s41436-018-0016-6. Epub 2018 Aug 13.

PMID:
30100613
20.

Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease.

Zimran A, Revel-Vilk S, Becker-Cohen M, Chicco G, Arbel N, Rolfs A, Szer J.

Am J Hematol. 2018 Sep;93(9):E246-E248. doi: 10.1002/ajh.25205. Epub 2018 Aug 9. No abstract available.

PMID:
29989200

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