Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.

Eur. J. Hum. Genet. 2016; 24(1): 78-85. FI: 4,287(Q1). DOI: 10.1038/ejhg.2015.55

30/06/16

Inter-individual Differences in CpG Methylation at D4Z4 Correlate with Clinical Variability in FSHD1 and FSHD2

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJGM, Lopez de Munain A, van Engelen BGM, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM

Hum Mol GenetHum Mol Genet. 2015; 24 (3): 659-69.

30/06/15

Rapidly Reversible Winging Scapula

Fernández-Torrón R, de Munain AL, Camaño P, García-Bragado F

Arthritis Rheumatol. 2015; 67 (9): 2502.

30/06/15

Inter-individual Differences in CpG Methylation at D4Z4 Correlate with Clinical Variability in FSHD1 and FSHD2 – 5

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJGM, Lopez de Munain A, BGM van Engelen BGM, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM

Hum Mol Genet

25/09/14

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation

Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, DiMauro S, Hirano M

JAMA Neurol

21/11/13

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia

Peyer AK, Kinter J, Hench J, Frank S, Fuhr P, Thomann S, Fischmann A, Kneifel S, Camaño P, Munain AL, Sinnreich M, Renaud S

Neuromuscul Disord

07/02/13

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C

J Med Genet

17/01/12

The clinical features of facioscapulohumeral dystrophy 2

de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R

Neurology

26/10/10

A unifying genetic model for facioscapulohumeral muscular dystrophy

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM

Science

24/09/10

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget´s disease of bone and frontotemporal dementia

Stojkovic T, Hammouda EH, Richard P, López de Munain A, Ruiz-Martínez J, Camaño P, Laforêt P, Pénisson-Besnier I, Ferrer X, Lacour A, Lacomblez L, Claeys KG, Maurage C, Fardeau M, Eymard B

Neuromusc Disord

14/05/09