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121 results

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Page 1
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: montanari f. Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38702428
Fabry disease: a rare disorder calling for personalized medicine.
Lerario S, Monti L, Ambrosetti I, Luglio A, Pietra A, Aiello V, Montanari F, Bellasi A, Zaza G, Galante A, Salera D, Capelli I, La Manna G, Provenzano M. Lerario S, et al. Among authors: montanari f. Int Urol Nephrol. 2024 Apr 13. doi: 10.1007/s11255-024-04042-4. Online ahead of print. Int Urol Nephrol. 2024. PMID: 38613662 Review.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: montanari f. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Aiello V, Ciurli F, Conti A, Cristalli CP, Lerario S, Montanari F, Sciascia N, Vischini G, Fabbrizio B, Di Costanzo R, Olivucci G, Pietra A, Lopez A, Zambianchi L, La Manna G, Capelli I. Aiello V, et al. Among authors: montanari f. Genes (Basel). 2023 Dec 19;15(1):3. doi: 10.3390/genes15010003. Genes (Basel). 2023. PMID: 38275584 Free PMC article.
121 results