4.2 Article

Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

Aisling S. Carr et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2015)

Review Clinical Neurology

Charcot-Marie-Tooth Disease Type 2A From Typical to Rare Phenotypic and Genotypic Features

Francesco Bombelli et al.

JAMA NEUROLOGY (2014)

Review Clinical Neurology

Peripheral neuropathy in mitochondrial disorders

Davide Pareyson et al.

LANCET NEUROLOGY (2013)

Letter Clinical Neurology

MFN2 mutations cause compensatory mitochondrial DNA proliferation

Kamil S. Sitarz et al.

BRAIN (2012)

Article Neurosciences

Mitofusin2 Mutations Disrupt Axonal Mitochondrial Positioning and Promote Axon Degeneration

Albert L. Misko et al.

JOURNAL OF NEUROSCIENCE (2012)

Article Clinical Neurology

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

Sinead M. Murphy et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)

Article Clinical Neurology

MFN2 mutations cause severe phenotypes in most patients with CMT2A

S. M. E. Feely et al.

NEUROLOGY (2011)

Review Neurosciences

Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A

Romain Cartoni et al.

EXPERIMENTAL NEUROLOGY (2009)

Article Genetics & Heredity

A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs

S. Ajroud-Driss et al.

NEUROGENETICS (2009)

Article Clinical Neurology

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations

Jean-Michel Vallat et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2008)

Article Clinical Neurology

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

S Züchner et al.

ANNALS OF NEUROLOGY (2006)