Works matching IS 13646745 AND DT 2015 AND VI 16 AND IP 1

Results: 9

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 43, doi. 10.1007/s10048-014-0427-8

By:

Laššuthová, P.;
Brožková, D.;
Krůtová, M.;
Neupauerová, J.;
Haberlová, J.;
Mazanec, R.;
Dvořáčková, N.;
Goldenberg, Z.;
Seeman, P.

Publication type:

Article

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 33, doi. 10.1007/s10048-014-0422-0

By:

Zimoń, Magdalena;
Battaloğlu, Esra;
Parman, Yesim;
Erdem, Sevim;
Baets, Jonathan;
Vriendt, Els;
Atkinson, Derek;
Almeida-Souza, Leonardo;
Deconinck, Tine;
Ozes, Burcak;
Goossens, Dirk;
Cirak, Sebahattin;
Damme, Philip;
Shboul, Mohammad;
Voit, Thomas;
Maldergem, Lionel;
Dan, Bernard;
El-Khateeb, Mohammed;
Guergueltcheva, Velina;
Lopez-Laso, Eduardo

Publication type:

Article

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 55, doi. 10.1007/s10048-014-0425-x

By:

Quadri, Marialuisa;
Yang, Xu;
Cossu, Giovanni;
Olgiati, Simone;
Saddi, Valeria;
Breedveld, Guido;
Ouyang, Limei;
Hu, Jingchu;
Xu, Na;
Graafland, Josja;
Ricchi, Valeria;
Murgia, Daniela;
Guedes, Leonor;
Mariani, Claudio;
Marti, Maria;
Tarantino, Patrizia;
Asselta, Rosanna;
Valldeoriola, Francesc;
Gagliardi, Monica;
Pezzoli, Gianni

Publication type:

Article

The LITAF/ SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 27, doi. 10.1007/s10048-014-0426-9

By:

Sinkiewicz-Darol, Elena;
Lacerda, Andressa;
Kostera-Pruszczyk, Anna;
Potulska-Chromik, Anna;
Sokołowska, Beata;
Kabzińska, Dagmara;
Brunetti, Craig;
Hausmanowa-Petrusewicz, Irena;
Kochański, Andrzej

Publication type:

Article

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 1, doi. 10.1007/s10048-014-0421-1

By:

Ajroud-Driss, Senda;
Fecto, Faisal;
Ajroud, Kaouther;
Lalani, Irfan;
Calvo, Sarah;
Mootha, Vamsi;
Deng, Han-Xiang;
Siddique, Nailah;
Tahmoush, Albert;
Heiman-Patterson, Terry;
Siddique, Teepu

Publication type:

Article

A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 11, doi. 10.1007/s10048-014-0424-y

By:

Velázquez-Pérez, L.;
Cerecedo-Zapata, C.;
Hernández-Hernández, O.;
Martínez-Cruz, E.;
Tapia-Guerrero, Y.;
González-Piña, R.;
Salas-Vargas, J.;
Rodríguez-Labrada, R.;
Gurrola-Betancourth, R.;
Leyva-García, N.;
Cisneros, B.;
Magaña, J.

Publication type:

Article

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 23, doi. 10.1007/s10048-014-0428-7

By:

Sheffer, Ruth;
Bennett-Back, Odeya;
Yaacov, Barak;
Edvardson, Simon;
Gomori, Moshe;
Werner, Marion;
Fahham, Duha;
Anteby, Irene;
Frumkin, Ayala;
Meiner, Vardiella;
Elpeleg, Orly

Publication type:

Article

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 65, doi. 10.1007/s10048-014-0431-z

By:

Keogh, Michael;
Daud, D.;
Pyle, A.;
Duff, J.;
Griffin, H.;
He, L.;
Alston, C.;
Steele, H.;
Taggart, S.;
Basu, A.;
Taylor, R.;
Horvath, R.;
Ramesh, V.;
Chinnery, Patrick

Publication type:

Article

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

Published in:

Neurogenetics, 2015, v. 16, n. 1, p. 69, doi. 10.1007/s10048-014-0416-y

By:

Sergouniotis, Panagiotis;
Perveen, Rahat;
Thiselton, Dawn;
Giannopoulos, Konstantinos;
Sarros, Marios;
Davies, Jennifer;
Biswas, Susmito;
Ansons, Alec;
Ashworth, Jane;
Lloyd, I.;
Black, Graeme;
Votruba, Marcela

Publication type:

Article