| no |
title |
author |
magazine |
year |
volume |
issue |
page(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
|
article
|
| 2 |
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate
|
Quadri, Marialuisa
|
|
2014
|
16 |
1 |
p. 55-64
|
article
|
| 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
|
article
|
| 4 |
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
|
Sergouniotis, Panagiotis I.
|
|
2014
|
16 |
1 |
p. 69-75
|
article
|
| 5 |
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene
|
Sheffer, Ruth
|
|
2014
|
16 |
1 |
p. 23-26
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
Journal description