Volume 2; Issue 1

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Neurology: Genetics
Volume 2; Issue 1

Neurology: Genetics

Volume 2; Issue 1

1

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants

Nuytemans, K., Maldonado, L., Ali, A., John-Williams, K., Beecham, G. W., Martin, E., Scott, W. K., Vance, J. M.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 324 KB

english, 2016

2

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia

de Gusmao, C. M., Kok, F., Casella, E. B., Waugh, J. L.

Journal:

Neurology: Genetics

Year:

2015

Language:

english

File:

PDF, 191 KB

english, 2015

3

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters

Hall, D. A., Robertson-Dick, E. E., O'Keefe, J. A., Hadd, A. G., Zhou, L., Berry-Kravis, E.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 414 KB

english, 2016

4

Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

Okuma, H., Saito, F., Mitsui, J., Hara, Y., Hatanaka, Y., Ikeda, M., Shimizu, T., Matsumura, K., Shimizu, J., Tsuji, S., Sonoo, M.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 971 KB

english, 2016

5

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

Kohli, M. A., Cukier, H. N., Hamilton-Nelson, K. L., Rolati, S., Kunkle, B. W., Whitehead, P. L., Zuchner, S. L., Farrer, L. A., Martin, E. R., Beecham, G. W., Haines, J. L., Vance, J. M., Cuccaro, M.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 420 KB

english, 2016

6

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene

de Filette, J., Hasaerts, D., Seneca, S., Gheldof, A., Stouffs, K., Keymolen, K., Velkeniers, B.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 302 KB

english, 2016

7

Genetics of neurodegenerative diseases

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 155 KB

english, 2016

8

White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations

Ameur, F., Colliot, O., Caroppo, P., Stroer, S., Dormont, D., Brice, A., Azuar, C., Dubois, B., Le Ber, I., Bertrand, A.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 333 KB

english, 2016

9

Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum

Mano, K. K., Matsukawa, T., Mitsui, J., Ishiura, H., Tokushige, S.-i., Takahashi, Y., Sato, N. S., Nakamoto, F. K., Ichikawa, Y., Nagashima, Y., Terao, Y., Shimizu, J., Hamada, M., Uesaka, Y., Oyama,

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 605 KB

english, 2016

10

Expanding the ataxia with oculomotor apraxia type 4 phenotype

Paucar, M., Malmgren, H., Taylor, M., Reynolds, J. J., Svenningsson, P., Press, R., Nordgren, A.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 227 KB

english, 2016

11

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

Oliver, Karen L., Lukic, Vesna, Freytag, Saskia, Scheffer, Ingrid E., Berkovic, Samuel F., Bahlo, Melanie

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 255 KB

english, 2016

12

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

Ferreira, Patrick, Luco, Stephanie M., Sawyer, Sarah L., Davila, Jorge, Boycott, Kym M., Dyment, David A.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 230 KB

english, 2016

13

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

Rodan, Lance H., Zak, Maria, Stavropoulos, James, Joseph-George, Ann M., Minassian, Berge A.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 426 KB

english, 2016

14

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 742 KB

english, 2016

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