Volume 2; Issue 6

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Neurology: Genetics
Volume 2; Issue 6

Neurology: Genetics

Volume 2; Issue 6

1

FHF1 (FGF12) epileptic encephalopathy: Table

Al-Mehmadi, Sameer, Splitt, Miranda, Ramesh, Venkateswaran, DeBrosse, Suzanne, Dessoffy, Kimberly, Xia, Fan, Yang, Yaping, Rosenfeld, Jill A., Cossette, Patrick, Michaud, Jacques L., Hamdan, Fadi F.,

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 110 KB

english, 2016

2

SORL1 mutations in early- and late-onset Alzheimer disease

Cuccaro, Michael L., Carney, Regina M., Zhang, Yalun, Bohm, Christopher, Kunkle, Brian W., Vardarajan, Badri N., Whitehead, Patrice L., Cukier, Holly N., Mayeux, Richard, St. George-Hyslop, Peter, Per

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 684 KB

english, 2016

3

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grang

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

4

Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia

Wang, Wei, Wu, Yanhong, Wang, Chen, Jiao, Jinsong, Klein, Christopher J.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 428 KB

english, 2016

5

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Guella, Ilaria, Huh, Linda, McKenzie, Marna B., Toyota, Eric B., Bebin, E. Martina, Thompson, Michelle L., Cooper, Gregory M., Evans, Daniel M., Buerki, Sarah E., Adam, Shelin, Van Allen, Margot I., N

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 684 KB

english, 2016

6

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic

Pröbstel, Anne-Katrin, Schaller, André, Lieb, Johanna, Hench, Juergen, Frank, Stephan, Fuhr, Peter, Kappos, Ludwig, Sinnreich, Michael

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 414 KB

english, 2016

7

Phenotypic convergence of Menkes and Wilson disease

Bansagi, Boglarka, Lewis-Smith, David, Pal, Endre, Duff, Jennifer, Griffin, Helen, Pyle, Angela, Müller, Juliane S., Rudas, Gabor, Aranyi, Zsuzsanna, Lochmüller, Hanns, Chinnery, Patrick F., Horvath,

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 340 KB

english, 2016

8

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

Lehmann, Diana, Kornhuber, Malte E., Clajus, Carolina, Alston, Charlotte L., Wienke, Andreas, Deschauer, Marcus, Taylor, Robert W., Zierz, Stephan

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 459 KB

english, 2016

9

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

Oestergaard, S.T., Stojkovic, T., Dahlqvist, J.R., Bouchet-Seraphin, C., Nectoux, J., Leturcq, F., Cossée, M., Solé, G., Thomsen, C., Krag, T.O., Vissing, J.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 654 KB

english, 2016

10

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

Alvarez, Valeria Carolina, Penttilä, Sini Tellervo, Salutto, Valeria Luján, Udd, Bjarne, Mazia, Claudio Gabriel

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

11

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 504 KB

english, 2016

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