C. Iturriaga

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

C. Iturriaga, M. Pineda, E.M. Fernández-Valero et al. · Journal of the Neurological Sciences · 2006 · 148 citations

Niemann–pick C Disease, Inherited Metabolic Disease, Clinical Epidemiology +5

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Carmen Paradas, Jaume Llauger, Jordi Díaz‐Manera et al. · Neurology · 2010 · 130 citations

Identification of 25 new mutations in 40 unrelated Spanish Niemann‐Pick type C patients: genotype‐phenotype correlations

E.M. Fernández-Valero, A Ballart, C. Iturriaga et al. · Clinical Genetics · 2005 · 97 citations · Full text

Hereditary Motor and Sensory Neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies

J. Colomer, C. Iturriaga, Luba Kalaydjieva et al. · Neuromuscular Disorders · 2000 · 27 citations

Hereditary Motor, Mendelian Disorder, Neurological Disorder +13

Autosomal dominant Emery–Dreifuss muscular dystrophy: a new family with late diagnosis

J. Colomer, C. Iturriaga, Gisèle Bonne et al. · Neuromuscular Disorders · 2002 · 24 citations

Rare Diseases, New Family, Late Diagnosis +3