Suchergebnisse - "Megarbane, Andre"

PubPharm (6)

1

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

enthalten in: Brain | 2016

von Yoon, G. | Delague, V. | Mégarbané, A. | +1

2

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

enthalten in: Brain | 2015

von Jobling, R. | Assoum, M. | Gakh, O. | +20

3

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

enthalten in: Brain | 2015

von Jobling, R. | Assoum, M. | Gakh, O. | +20

4

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

enthalten in: Brain | 2014

von Foley, A. | Menezes, M. | Pandraud, A. | +51

5

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

enthalten in: Brain | 2012

von Johnson, J. | Gibbs, J. | Megarbane, A. | +12

6

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

enthalten in: Brain | 2010

von Willemsen, M. | Verbeek, M. | Kamsteeg, E. | +29

1
[1]