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[Clinical data on the diagnosis of colic in infants. Survey in 2,773 infants aged 15-119 days. Groupment des pédiatres de la région de Lyon (GPRL), le Groupment lyonnais de recherche en pédiatrie ambulatoire (GLYRPA), l'association des pédiatres de la région stéphanoise (APRS) et la Formation pédiatrique grenobloise (FPG)].
Stagnara J, Blanc JP, Danjou G, Simon-Ghediri MJ, Dürr F. Stagnara J, et al. Among authors: danjou g. Arch Pediatr. 1997 Oct;4(10):959-66. doi: 10.1016/s0929-693x(97)86091-5. Arch Pediatr. 1997. PMID: 9436493 French.
Growth monitoring: a survey of current practices of primary care paediatricians in Europe.
Scherdel P, Salaün JF, Robberecht-Riquet MN, Reali L, Páll G, Jäger-Roman E, Crespo MP, Moretto M, Seher-Zupančič M, Agustsson S; European Confederation of Primary Care Paediatricians Research Group; Chalumeau M. Scherdel P, et al. PLoS One. 2013 Aug 5;8(8):e70871. doi: 10.1371/journal.pone.0070871. Print 2013. PLoS One. 2013. PMID: 23940655 Free PMC article.
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Feichtinger RG, et al. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16. Genet Med. 2019. PMID: 31092906 Free article.
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy.
Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, Kraus JE, Lourbakos A, Lin Z, Campion G, Wang SX, Campbell C; DEMAND III study group. Goemans N, et al. Neuromuscul Disord. 2018 Jan;28(1):4-15. doi: 10.1016/j.nmd.2017.10.004. Epub 2017 Dec 6. Neuromuscul Disord. 2018. PMID: 29203355 Free article. Clinical Trial.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade D… See abstract for full author list ➔ Hamdan FF, et al. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network. Krosschell KJ, et al. Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18. Muscle Nerve. 2018. PMID: 28833236 Clinical Trial.
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
Kissel JT, Elsheikh B, King WM, Freimer M, Scott CB, Kolb SJ, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators Network. Kissel JT, et al. Muscle Nerve. 2014 Feb;49(2):187-92. doi: 10.1002/mus.23904. Muscle Nerve. 2014. PMID: 23681940 Free PMC article. Clinical Trial.
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