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Page 1
Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia.
Ekmen A, Doulazmi M, Méneret A, Jegatheesan P, Hervé A, Damier P, Gras D, Roubertie A, Piard J, Mutez E, Tarrano C, Welniarz Q, Vidailhet M, Worbe Y, Gallea C, Roze E. Ekmen A, et al. Among authors: piard j. Mov Disord Clin Pract. 2023 Jun 5;10(7):1082-1089. doi: 10.1002/mdc3.13795. eCollection 2023 Jul. Mov Disord Clin Pract. 2023. PMID: 37476308 Free PMC article.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I. Whalen S, et al. Among authors: piard j. Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23. Hum Mutat. 2012. PMID: 22045651
Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis.
Ramanah R, Martin A, Guigue V, Arbez-Gindre F, Piard J, Terrosi P, Alanio E, Favre R, Gaillard D, Riethmuller D. Ramanah R, et al. Among authors: piard j. Ultrasound Obstet Gynecol. 2012 Dec;40(6):724-5. doi: 10.1002/uog.11146. Epub 2012 Nov 15. Ultrasound Obstet Gynecol. 2012. PMID: 22374821 Free article. No abstract available.
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
Piard J, Essien Umanah GK, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K. Piard J, et al. Brain. 2018 Jun 1;141(6):e50. doi: 10.1093/brain/awy100. Brain. 2018. PMID: 29659731 Free PMC article. No abstract available.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N. Miyake N, et al. Among authors: piard j. Am J Med Genet A. 2016 Oct;170(10):2662-70. doi: 10.1002/ajmg.a.37778. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264538
108 results