Sandy Budde

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Ralf Triepels, Lambertus P. van den Heuvel, Jan Loeffen et al. · Annals of Neurology · 1999 · 192 citations · Full text

Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

Sandy Budde, Lambert P.W.J. van den Heuvel, A.J.M. Janssen et al. · Biochemical and Biophysical Research Communications · 2000 · 185 citations

Enzymatic Complex, Genetic Disorder, Natural Sciences +8

Pathological Mutations of the Human NDUFS4 Gene of the 18-kDa (AQDQ) Subunit of Complex I Affect the Expression of the Protein and the Assembly and Function of the Complex

Salvatore Scacco, Vittoria Petruzzella, Sandy Budde et al. · Journal of Biological Chemistry · 2003 · 143 citations · Full text

Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome

Sergio Papa, Salvatore Scacco, Anna Maria Sardanelli et al. · FEBS Letters · 2001 · 94 citations · Full text

Clinical heterogeneity in patients with mutations in the <i>NDUFS4</i> gene of mitochondrial complex I

Sandy Budde, Lambert P.W.J. van den Heuvel, Roel Smeets et al. · Journal of Inherited Metabolic Disease · 2003 · 73 citations