Show
Sort by
-
Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2
-
Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances
-
Pathogenic mutations in TMEM126b, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families
-
Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2
-
RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome
-
- Journal Article
- A1
- open access
Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
-
ALG1-CDG: clinical and molecular characterization of 39 unreported patients
-
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients
-
STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy
-
- Journal Article
- A1
- open access
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency