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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.
Morphological spectrum and clinical features of myopathies with tubular aggregates.
Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG. Funk F, et al. Among authors: van coster r, van maldergem l. Histol Histopathol. 2013 Aug;28(8):1041-54. doi: 10.14670/HH-28.1041. Epub 2013 Mar 12. Histol Histopathol. 2013. PMID: 23479431
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L. Ruaud L, et al. Among authors: van eyk l, van maldergem l. Hum Mutat. 2018 Aug;39(8):1076-1080. doi: 10.1002/humu.23554. Epub 2018 Jun 4. Hum Mutat. 2018. PMID: 29782060 Free PMC article.
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Callewaert B, et al. Among authors: van maldergem l, van damme t. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13. Hum Mutat. 2013. PMID: 22829427 Free PMC article.
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K. Moog U, et al. Among authors: van maldergem l. Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3. Orphanet J Rare Dis. 2015. PMID: 25886057 Free PMC article.
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
263 results