Volume 4; Issue 2

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Neurology: Genetics
Volume 4; Issue 2

Neurology: Genetics

Volume 4; Issue 2

1

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 472 KB

english, 2018

2

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

Bouwkamp, Christian G., Afawi, Zaid, Fattal-Valevski, Aviva, Krabbendam, Inge E., Rivetti, Stefano, Masalha, Rafik, Quadri, Marialuisa, Breedveld, Guido J., Mandel, Hanna, Tailakh, Muhammad Abu, Bever

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 688 KB

english, 2018

3

Rare ABCA7 variants in 2 German families with Alzheimer disease

May, Patrick, Pichler, Sabrina, Hartl, Daniela, Bobbili, Dheeraj R., Mayhaus, Manuel, Spaniol, Christian, Kurz, Alexander, Balling, Rudi, Schneider, Jochen G., Riemenschneider, Matthias

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 600 KB

english, 2018

4

Diagnostic odyssey of patients with mitochondrial disease

Grier, Johnston, Hirano, Michio, Karaa, Amel, Shepard, Emma, Thompson, John L.P.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 187 KB

english, 2018

5

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype

Kulikovskaja, Leonora, Sarajlija, Adrijan, Savic-Pavicevic, Dusanka, Dobricic, Valerija, Klein, Christine, Westenberger, Ana

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 233 KB

english, 2018

6

Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability

Krim, Elsa, Aupy, Jerome, Clot, Fabienne, Bonnan, Mickael, Burbaud, Pierre, Guehl, Dominique

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 147 KB

english, 2018

7

Ataxia-telangiectasia

Leuzzi, Vincenzo, D'Agnano, Daniela, Menotta, Michele, Caputi, Caterina, Chessa, Luciana, Magnani, Mauro

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 321 KB

english, 2018

8

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Salter, Claire G., Beijer, Danique, Hardy, Holly, Barwick, Katy E.S., Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A., McEntagart, Meriel M., Chioza, Barry A., Blake

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 487 KB

english, 2018

9

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

Marelli, Cecilia, Hamel, Christian, Quiles, Melanie, Carlander, Bertrand, Larrieu, Lise, Delettre, Cecile, Sarzi, Emmanuelle, Chretien, Dominique, Rustin, Pierre, Koenig, Michel, Guissart, Claire

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 444 KB

english, 2018

10

Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant

Margolesky, Jason, Saporta, Mario

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 199 KB

english, 2018