Medizinische Universität Graz - Research portal
Knisely Alexander |
** = Publications listed in SCI/SSCI/Pubmed
2024
Full paper/article (Journal)
** Kohlmaier, B; Tichy, H; Blatterer, J; Till, H; Schlagenhauf, A; Knisely, AS
Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report.
JPGN Rep. 2024; 5(4): 533-537.
Doi: 10.1002/jpr3.12131
[OPEN ACCESS]
PubMed
FullText
FullText_MUG
** Vogel, GF; Podpeskar, A; Rieder, D; Salzer, H; Garczarczyk-Asim, D; Wang, L; Abuduxikuer, K; Wang, JS; Scharrer, A; Faqeih, EA; Aseeri, AT; Vodopiutz, J; Heilos, A; Pichler, J; Huber, WD; Müller, T; Knisely, AS; Janecke, AR
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity
CLIN GENET. 2024;
Doi: 10.1111/cge.14524
Web of Science
PubMed
FullText
FullText_MUG
Case Report
** Entenmann, A; Kogler, H; Huber, WD; Kölz, M; Knisely, AS; Skok, K
Langerhans Cell Histiocytosis or Acute Cellular Rejection?
Pediatr Transplant. 2024; 28(8): e14884
Doi: 10.1111/petr.14884
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
** Kohlmaier, B; Skok, K; Lackner, C; Haselrieder, G; Müller, T; Sailer, S; Zschocke, J; Keller, MA; Knisely, AS; Janecke, AR
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.
Int J Obes (Lond). 2024; 48(12): 1818-1821.
Doi: 10.1038/s41366-024-01634-z
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Biographical-Item
** Finn, LS; Picarsic, J; Knisely, AS
Founders of Pediatric Pathology: Dr. Ron Jaffe (1943-2022) - An Appreciation
PEDIATR DEVEL PATHOL. 2024;
Doi: 10.1177/10935266231222712
Web of Science
PubMed
FullText
FullText_MUG
2023
Full paper/article (Journal)
** Azabdaftari, A; Sczakiel, HL; Danyel, M; Kohlmaier, B; Mache, CJ; Stalke, A; Pfister, ED; Thumfart, J; Henning, S; Knisely, AS; Bufler, P
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver Int. 2023; 43(5):1089-1095
Doi: 10.1111/liv.15563
Web of Science
PubMed
FullText
FullText_MUG
** Neroldova, M; Ciara, E; Slatinska, J; Frankova, S; Liskova, P; Kotalova, R; Globinovska, J; Safarikova, M; Pfeiferova, L; Zunova, H; Mrazova, L; Stranecky, V; Vrbacka, A; Fabian, O; Sticova, E; Skanderova, D; Sperl, J; Kalousova, M; Zima, T; Macek, M; Pawlowska, J; Knisely, AS; Kmoch, S; Jirsa, M
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
PLOS ONE. 2023; 18(7): e0288907
Doi: 10.1371/journal.pone.0288907
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Case Report
** Mulzer, LM; Reutter, H; Jüngert, J; Knisely, AS; Schmid, M; Hoerning, A; Morhart, P
Premature birth associated with a favorable course in gestational alloimmune liver disease (GALD): A case report.
Front Pediatr. 2023; 11: 1104530
Doi: 10.3389/fped.2023.1104530
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Abstract (Journal)
** Neroldova, M; Ciara, E; Slatinska, J; Frankova, S; Liskova, P; Kotalova, R; Globinovska, J; Safarikova, M; Pfeiferova, L; Zunova, H; Mrazova, L; Stranecky, V; Fabian, O; Sticova, E; Skanderova, D; Sperl, J; Kalousova, M; Zima, T; Macek, M; Pawlowska, J; Knisely, A; Kmoch, S; Jirsa, M; Pawlowska, J; Slatinska, J; Frankova, S; Liskova, P; Kotalova, R; Globinovska, J; Safarikova, M; Pfeiferova, L; Zunova, H; Mrazova, L; Stranecky, V; Fabian, O; Sticova, E; Skanderova, D; Sperl, J; Kalou, M
DIAGNOSTIC OUTCOME STUDY OF EXOME SEQUENCING IN GENETIC CHOLESTASIS REVEALS IFT172 VARIANTS IN ASSOCIATION WITH NON-SYNDROMIC LIVER DISEASE
HEPATOLOGY. 2023; 77(5):E170-E171.-American Association for the Study of Liver Diseases (AASLD); NOV 10-14, 2023; Boston, MA.
[Poster]
Web of Science
Comment
** Knisely, AS
Fatherhood after liver transplantation for severe ATP8B1 disease.
Pediatr Transplant. 2023; e14639
Doi: 10.1111/petr.14639
Web of Science
PubMed
FullText
FullText_MUG
2022
Full paper/article (Journal)
** Pietrobattista, A; Spada, M; Candusso, M; Boenzi, S; Dionisi-Vici, C; Francalanci, P; Morrone, A; Ferri, L; Indolfi, G; Agolini, E; Giordano, G; Monti, L; Maggiore, G; Knisely, AS
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure
PEDIATR TRANSPLANT. 2022; e14318
Doi: 10.1111/petr.14318
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
2021
Full paper/article (Journal)
** Fang, WY; Abuduxikuer, K; Shi, P; Qiu, YL; Zhao, J; Li, YC; Zhang, XY; Wang, NL; Xie, XB; Lu, Y; Knisely, AS; Wang, JS
Pediatric Wilson disease presenting as acute liver failure: Prognostic indices.
WORLD J CLIN CASES. 2021; 9(14): 3273-3286.
Doi: 10.12998/wjcc.v9.i14.3273
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Luan, W; Hao, CZ; Li, JQ; Wei, Q; Gong, JY; Qiu, YL; Lu, Y; Shen, CH; Xia, Q; Xie, XB; Zhang, MH; Abuduxikuer, K; Li, ZD; Wang, L; Xing, QH; Knisely, AS; Wang, JS
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
J Med Genet. 2021; 58(8):514-525
Doi: 10.1136/jmedgenet-2019-106706
Web of Science
PubMed
FullText
FullText_MUG
** Schneeberger, PE; Nampoothiri, S; Holling, T; Yesodharan, D; Alawi, M; Knisely, AS; Müller, T; Plecko, B; Janecke, AR; Kutsche, K
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
BRAIN. 2021; 144(10): 3036-3049.
Doi: 10.1093/brain/awab206
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Editorial
** Knisely, AS; Houwen, RHJ
Liver Steatosis and Diarrhea After Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Can Biliary Diversion Solve These Problems?
J Pediatr Gastroenterol Nutr. 2021; 72(3):341-342
Doi: 10.1097/MPG.0000000000002990
Web of Science
PubMed
FullText
FullText_MUG
Case Report
** Czubkowski, P; Thompson, RJ; Jankowska, I; Knisely, AS; Finegold, M; Parsons, P; Cielecka-Kuszyk, J; Strautnieks, S; Pawłowska, J; Bull, LN
Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report.
World J Clin Cases. 2021; 9(15):3631-3636
Doi: 10.12998/wjcc.v9.i15.3631
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2020
Full paper/article (Journal)
** Dezsőfi, A; Knisely, AS
Liver Biopsy in High-risk Children: Which Way to Go?
J Pediatr Gastroenterol Nutr. 2020; 70(4):411-412
Doi: 10.1097/MPG.0000000000002620
Web of Science
PubMed
FullText
FullText_MUG
** Li, LT; Li, ZD; Yang, Y; Lu, Y; Xie, XB; Chen, L; Feng, JY; Knisely, AS; Wang, JS
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Liver Int. 2020; 40(11):2788-2796
Doi: 10.1111/liv.14642
Web of Science
PubMed
FullText
FullText_MUG
** Zhang, J; Liu, LL; Gong, JY; Hao, CZ; Qiu, YL; Lu, Y; Feng, JY; Li, JQ; Li, ZD; Wang, MX; Xing, QH; Knisely, AS; Wang, JS
TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
Hum Mutat. 2020; 41(2):502-511
Doi: 10.1002/humu.23947
Web of Science
PubMed
FullText
FullText_MUG
** Zhang, J; Yang, Y; Gong, JY; Li, LT; Li, JQ; Zhang, MH; Lu, Y; Xie, XB; Hong, YR; Yu, Z; Knisely, AS; Wang, JS
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Liver Int. 2020; 40(5):1142-1150
Doi: 10.1111/liv.14422
Web of Science
PubMed
FullText
FullText_MUG
Short report/Letter
** Vogel, GF; Maurer, E; Entenmann, A; Straub, S; Knisely, AS; Janecke, AR; Müller, T
Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.
Eur J Hum Genet. 2020; 28(6):840-844
Doi: 10.1038/s41431-020-0613-0
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2019
Full paper/article (Journal)
** Fotoulaki, M; Giza, S; Jirsa, M; Grammatikopoulos, T; Miquel, R; Hytiroglou, P; Tsitouridis, I; Knisely, AS
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations.
PEDIATRICS. 2019; 143(5):
Doi: 10.1542/peds.2018-2146
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Li, JQ; Gong, JY; Knisely, AS; Zhang, MH; Wang, JS
Recurrent acute liver failure associated with novel SCYL1 mutation: A case report
WORLD J CLIN CASES. 2019; 7(4): 494-499.
Doi: 10.12998/wjcc.v7.i4.494
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
J Pediatr Gastroenterol Nutr. 2019; 68(1):e1-e6-e1-e6
Doi: 10.1097/MPG.0000000000002149
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2018
Full paper/article (Journal)
** El Demellawy, D; Lee, JY; McDonell, L; Dyment, DA; Knisely, AS; McGowan-Jordan, J; Ngan, B; Finegold, M; Kapur, RP; Nasr, A
Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.
Pediatr Dev Pathol. 2018; 22(4):365-369
Doi: 10.1177/1093526618806750
Web of Science
PubMed
FullText
FullText_MUG
** Liu, T; Wang, RX; Han, J; Hao, CZ; Qiu, YL; Yan, YY; Li, LT; Wang, NL; Gong, JY; Lu, Y; Zhang, MH; Xie, XB; Yang, JC; You, YJ; Li, JQ; Knisely, AS; Borchers, CH; Ling, V; Wang, JS
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
LIVER INT. 2018; 38(9): 1676-1685.
Doi: 10.1111/liv.13714
Web of Science
PubMed
FullText
FullText_MUG
** Pearson, H; Knisely, AS; Deheragoda, M; Zacharoulis, S; Carceller, F
Treatment of metastatic hepatocellular carcinoma in pediatric patients: Two case reports.
PEDIATR HEMAT ONCOL. 2018; 35(1): 90-94.
Doi: 10.1080/08880018.2018.1457106
Web of Science
PubMed
FullText
FullText_MUG
** Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J
Severe DGUOK Deficiency in Austria: A Six-Patient Series.
J Pediatr Gastroenterol Nutr. 2018;
Doi: 10.1097/MPG.0000000000002149
PubMed
FullText
FullText_MUG
2017
Full paper/article (Journal)
** Dixon, PH; Sambrotta, M; Chambers, J; Taylor-Harris, P; Syngelaki, A; Nicolaides, K; Knisely, AS; Thompson, RJ; Williamson, C
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
Sci Rep. 2017; 7(1):11823-11823
Doi: 10.1038/s41598-017-11626-x
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Gong, JY; Setchell, KDR; Zhao, J; Zhang, W; Wolfe, B; Lu, Y; Lackner, K; Knisely, AS; Wang, NL; Hao, CZ; Zhang, MH; Wang, JS
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
J Pediatr Gastroenterol Nutr. 2017; 65(5):561-568
Doi: 10.1097/MPG.0000000000001730
Web of Science
PubMed
FullText
FullText_MUG
** Hanley, J; Dhar, DK; Mazzacuva, F; Fiadeiro, R; Burden, JJ; Lyne, AM; Smith, H; Straatman-Iwanowska, A; Banushi, B; Virasami, A; Mills, K; Lemaigre, FP; Knisely, AS; Howe, S; Sebire, N; Waddington, SN; Paulusma, CC; Clayton, P; Gissen, P
Vps33b is crucial for structural and functional hepatocyte polarity.
J Hepatol. 2017; 66(5):1001-1011
Doi: 10.1016/j.jhep.2017.01.001
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Li, JQ; Qiu, YL; Gong, JY; Dou, LM; Lu, Y; Knisely, AS; Zhang, MH; Luan, WS; Wang, JS
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
BMC Gastroenterol. 2017; 17(1):77-77
Doi: 10.1186/s12876-017-0636-3
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Qiu, YL; Gong, JY; Feng, JY; Wang, RX; Han, J; Liu, T; Lu, Y; Li, LT; Zhang, MH; Sheps, JA; Wang, NL; Yan, YY; Li, JQ; Chen, L; Borchers, CH; Sipos, B; Knisely, AS; Ling, V; Xing, QH; Wang, JS
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Hepatology. 2017; 65(5):1655-1669
Doi: 10.1002/hep.29020
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Review
** Lackner, C; Knisely, AS
[Liver biopsy in children and adolescents : Preliminary morphological examinations in diffuse liver disease].
Pathologe. 2017; 38(4):272-277
Doi: 10.1007/s00292-017-0306-9
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Narchi, H; Alhefeiti, S; Althabahi, F; Hertecant, J; Knisely, AS; Souid, AK
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Saudi J Gastroenterol. 2017; 23(5):303-305
Doi: 10.4103/sjg.SJG_178_17
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2016
Full paper/article (Journal)
** Gomez-Ospina, N; Potter, CJ; Xiao, R; Manickam, K; Kim, MS; Kim, KH; Shneider, BL; Picarsic, JL; Jacobson, TA; Zhang, J; He, W; Liu, P; Knisely, AS; Finegold, MJ; Muzny, DM; Boerwinkle, E; Lupski, JR; Plon, SE; Gibbs, RA; Eng, CM; Yang, Y; Washington, GC; Porteus, MH; Berquist, WE; Kambham, N; Singh, RJ; Xia, F; Enns, GM; Moore, DD
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
NAT COMMUN. 2016; 7(2): 10713-10713.
Doi: 10.1038/ncomms10713
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Grammatikopoulos, T; Sambrotta, M; Strautnieks, S; Foskett, P; Knisely, AS; Wagner, B; Deheragoda, M; Starling, C; Mieli-Vergani, G; Smith, J; University of Washington Center for Mendelian Genomics; Bull, L; Thompson, RJ
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
J HEPATOL. 2016; 65(6): 1179-1187.
Doi: 10.1016/j.jhep.2016.07.017
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Kopajtich, R; Murayama, K; Janecke, AR; Haack, TB; Breuer, M; Knisely, AS; Harting, I; Ohashi, T; Okazaki, Y; Watanabe, D; Tokuzawa, Y; Kotzaeridou, U; Kölker, S; Sauer, S; Carl, M; Straub, S; Entenmann, A; Gizewski, E; Feichtinger, RG; Mayr, JA; Lackner, K; Strom, TM; Meitinger, T; Müller, T; Ohtake, A; Hoffmann, GF; Prokisch, H; Staufner, C
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet. 2016; 99(2):414-422
Doi: 10.1016/j.ajhg.2016.05.027
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Stindt, J; Kluge, S; Dröge, C; Keitel, V; Stross, C; Baumann, U; Brinkert, F; Dhawan, A; Engelmann, G; Ganschow, R; Gerner, P; Grabhorn, E; Knisely, AS; Noli, KA; Pukite, I; Shepherd, RW; Ueno, T; Schmitt, L; Wiek, C; Hanenberg, H; Häussinger, D; Kubitz, R
Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency.
Hepatology. 2016; 63(2):524-537
Doi: 10.1002/hep.28311
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Zhang, MH; Knisely, AS; Wang, NL; Gong, JY; Wang, JS
Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.
BMC Gastroenterol. 2016; 16(1):92-92
Doi: 10.1186/s12876-016-0507-3
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2000
Abstract (Journal)
** Mueller, T; Fuchsbichler, A; Müller, W; Bavdekar, AR; Pradhan, AM; Knisely, AS; Rodeck, B; Kobayashi, K; Nagasaka, H; Sternlieb, I; Zatloukal, K; Denk, H
Characterization of Mallory bodies in non-Wilsonian hepatic copper toxicosis and alcoholic hepatitis.
HEPATOLOGY 2000 32: 1213-1213.
Web of Science