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263 results

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Page 1
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, Delberghe X, Martin JJ, Gillerot Y. Van Maldergem L, et al. Ann Neurol. 2002 Dec;52(6):750-4. doi: 10.1002/ana.10371. Ann Neurol. 2002. PMID: 12447928
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE. Van Maldergem L, et al. Among authors: van coster r. Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078310 Free PMC article.
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Kelley BP, et al. Among authors: van maldergem l. J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250. J Bone Miner Res. 2011. PMID: 20839288 Free PMC article.
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. Mallaret M, et al. Among authors: van maldergem l. J Neurol. 2016 Jul;263(7):1314-22. doi: 10.1007/s00415-016-8112-5. Epub 2016 May 3. J Neurol. 2016. PMID: 27142713
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. Coutelier M, et al. Among authors: van maldergem l. Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081. Brain. 2017. PMID: 28444220
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network; Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. Wang X, et al. Among authors: van maldergem l. Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct. Ann Clin Transl Neurol. 2018. PMID: 30349862 Free PMC article.
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF. Bennett CL, et al. Among authors: van maldergem l, van den bergh p. Ann Neurol. 2004 May;55(5):713-20. doi: 10.1002/ana.20094. Ann Neurol. 2004. PMID: 15122712
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
263 results