B. San Millán

发表

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

J. Castilla, H. Eraña, G. Perez de Nanclares, 2022, Journal of Neurology.

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

M. Reilly, H. Houlden, J. Gámez, 2016, neurogenetics.

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Chadwick M. Hales, L. Petrucelli, D. Dickson, 2020, Neuron.

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

J. Castilla, H. Eraña, G. Perez de Nanclares, 2022, Journal of Neurology.

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo.

L. Petrucelli, D. Dickson, M. Disney, 2020, Cell reports.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1)

C. Navarro, A. Repáraz, B. San Millán, 2015, Clinical neuropathology.

Pathology and diagnosis of muscular dystrophies.

C. Navarro, B. San Millán, S. Teijeira, 2009, Advances in experimental medicine and biology.

Learning curve of thyroid fine-needle aspiration biopsy.

M. Penín, B. San Millán, J. García, 2017, Endocrinologia, diabetes y nutricion.

Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II

I. Viéitez, C. Navarro, B. San Millán, 2010, Journal of Inherited Metabolic Disease.

Fabry disease in the Spanish population: observational study with detection of 77 patients

S. Ortolano, L. Aldámiz-Echevarría, I. Viéitez, 2018, Orphanet Journal of Rare Diseases.

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

B. Bornstein, Miguel Ángel Martín, E. García-Arumí, 2015, Neurology.

Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

P. Bovolenta, J. Serratosa, S. Rodríguez de Córdoba, 2012, Autophagy.

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

P. Bovolenta, J. Serratosa, S. Rodríguez de Córdoba, 2012, Human molecular genetics.

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

E. Rivas, I. Viéitez, C. Navarro, 2009, Clinical neuropathology.

Acute necrotizing encephalopathy of childhood: report of a Spanish case.

C. Navarro, C. Penin, B. San Millán, 2007, Pediatric neurology.

Gene symbol: LAMP2. Disease: Glycogen storage disease 2b.

I. Viéitez, C. Navarro, B. San Millán, 2008, Human genetics.