Posts Tagged: CYP2U1

Tools developed to help in the diagnosis of spastic paraplegia 56, by Durand et al Human Mutation 2017

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G,

Tools developed to help in the diagnosis of spastic paraplegia 56, by Durand et al Human Mutation 2017

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G,

The European consortium NEUROMICS had its annual meeting in Palma in March 2015

Neurodegenerative (NDD) and neuromuscular (NMD) diseases are amongst the most frequent of rare diseases, affecting the life and mobility of more than 500,000 patients and families in Europe. The focus of Neuromics is on 10 major disease categories. Some of

The European consortium NEUROMICS had its annual meeting in Palma in March 2015

Neurodegenerative (NDD) and neuromuscular (NMD) diseases are amongst the most frequent of rare diseases, affecting the life and mobility of more than 500,000 patients and families in Europe. The focus of Neuromics is on 10 major disease categories. Some of

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Abstract Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease comprises pure and complex forms that clinically include slowly progressive lower-limb spasticity resulting from degeneration of the corticospinal

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Abstract Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease comprises pure and complex forms that clinically include slowly progressive lower-limb spasticity resulting from degeneration of the corticospinal