nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7
|
Velázquez-Pérez, L. |
|
2014 |
16 |
1 |
p. 11-21 |
artikel |
2 |
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate
|
Quadri, Marialuisa |
|
2014 |
16 |
1 |
p. 55-64 |
artikel |
3 |
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism
|
Keogh, Michael J. |
|
2014 |
16 |
1 |
p. 65-67 |
artikel |
4 |
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
|
Sergouniotis, Panagiotis I. |
|
2014 |
16 |
1 |
p. 69-75 |
artikel |
5 |
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene
|
Sheffer, Ruth |
|
2014 |
16 |
1 |
p. 23-26 |
artikel |
6 |
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
|
Ajroud-Driss, Senda |
|
2014 |
16 |
1 |
p. 1-9 |
artikel |
7 |
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
|
Laššuthová, P. |
|
2014 |
16 |
1 |
p. 43-54 |
artikel |
8 |
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases
|
Sinkiewicz-Darol, Elena |
|
2014 |
16 |
1 |
p. 27-32 |
artikel |
9 |
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
|
Zimoń, Magdalena |
|
2014 |
16 |
1 |
p. 33-42 |
artikel |