Inter-individual Differences in CpG Methylation at D4Z4 Correlate with Clinical Variability in FSHD1 and FSHD2 – 3

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

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

van den Boogaard M, Lemmers RJ, Camano P, van der Vliet PJ, Voermans N, van Engelen BG, López de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM

Eur J Hum Genet

25/08/14

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

Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect

Sistiaga A, Camaño P, Otaegui D, Ibáñez B, Ruiz-Martinez J, Martí-Massó JF, López de Munain A

Genes Brain Behav

19/02/09

Clinical and genetic characterization of a new X-linked dominant scapuloperoneal myopathy

Quinzii C, Bonilla E, Vu T, Grewal R, Tanji K, Kattah A, Camano P, Otaegui D, Blake D, Wilhelmsen K, Rowland L, Hays A, Hirano M

American Journal of Human Genetics

21/01/08

Hybridization analysis of D4Z4 repeat arrays linked to FSHD

Ehrlich M, Jackson K, Tsumagari K, Camano P, Lemmers RJ

Chromosoma

19/04/07

CD24V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

Otaegui D, Saenz A, Camano P, Blazquez L, Goicoechea M, Ruiz-Martinez J, Olaskoaga J, Emparanza JA, Lopez de Munain A

Multiple Sclerosis

29/08/06

Distrofias musculares: apuntes para un mejor manejo clínico.

López de Munain A, Sáenz A, Camaño P, Goicoechea M, Martí I

Continua Neurológica.

27/06/05

LGMD2A: Genotype-phenotype correlations based on a large mutational survey on calpain 3 gene

Saenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camano P, Urtasun M, Vilchez J, Gutierrez-Rivas E, Emparanza J, Merlini L, Paisan C, Goicoechea M, Blazquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Marti-Masso JF, Lopez de Munain A

Brain

19/04/05