Ghent University Academic Bibliography

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Your filters: cql: keyword exact "MITOCHONDRIAL-DNA DELETIONS"

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- A1
- open access
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

Lionel Van Maldergem, Arnaud Besse, Boel De Paepe (UGent) , Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, et al.

(2017) ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 4(1). p.4-14
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- Journal Article
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Human hereditary hearing impairment: mouse models can help to solve the puzzle

K Vrijens, Lut Van Laer (UGent) and G Van Camp

(2008) HUMAN GENETICS. 124(4). p.325-348
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- Journal Article
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The complexity of age-related hearing impairment: Contributing environmental and genetic factors

E Van Eyken, G Van Camp and Lut Van Laer (UGent)

(2007) AUDIOLOGY AND NEURO-OTOLOGY. 12(6). p.345-358
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Digenic progressive external ophthalmoplegiain a sporadic patient: recessive mutationsin POLG and C10orf2/Twinkle

Gert Van Goethem, Ann Löfgren, Bart Dermaut (UGent) , Chantal Ceuterick, Jean-Jacques Martin and Christine Van Broeckhoven

(2003) HUMAN MUTATION. 22(2). p.175-176
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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

G Van Goethem, JJ Martin, Bart Dermaut (UGent) , A Löfgren, A Wibail, D Ververken, P Tack, I Dehaene, M Van Zandijcke, M Moonen, et al.

(2003) NEUROMUSCULAR DISORDERS. 13(2). p.133-142

Academic Bibliography