ADOLFO JOSÉ LÓPEZ DE MUNAIN ARREGUI-rekin lankidetzan egindako argitalpenak (7)

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2013

  1. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262

2012

  1. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report

    Journal of Medical Case Reports, Vol. 6

2010

  1. A Novel PRNP Y218N mutation in gerstmann-sträussler-scheinker disease with neurofibrillary degeneration

    Journal of Neuropathology and Experimental Neurology, Vol. 69, Núm. 8, pp. 789-800

  2. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    BMC Neurology, Vol. 10

  3. Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291