Volume 4; Issue 6

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Neurology: Genetics
Volume 4; Issue 6

Neurology: Genetics

Volume 4; Issue 6

1

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 352 KB

english, 2018

2

Molecular pathogenesis of human CD59 deficiency

Karbian, Netanel, Eshed-Eisenbach, Yael, Tabib, Adi, Hoizman, Hila, Morgan, B. Paul, Schueler-Furman, Ora, Peles, Elior, Mevorach, Dror

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 973 KB

english, 2018

3

Anti-inflammatory effects of dietary vitamin D 3 in patients with multiple sclerosis

Hashemi, Reza, Morshedi, Mohammad, Asghari Jafarabadi, Mohammad, Altafi, Davar, Saeed Hosseini-Asl, Seyed, Rafie-Arefhosseini, Seyed

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 503 KB

english, 2018

4

TPP2 mutation associated with sterile brain inflammation mimicking MS

Reinthaler, Eva M., Graf, Elisabeth, Zrzavy, Tobias, Wieland, Thomas, Hotzy, Christoph, Kopecky, Chantal, Pferschy, Sandra, Schmied, Christiane, Leutmezer, Fritz, Keilani, Mohammad, Lill, Christina M.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 674 KB

english, 2018

5

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

Hewamadduma, Channa A., Hoggard, Nigel, O'Malley, Ronan, Robinson, Megan K., Beauchamp, Nick J., Segamogaite, Ruta, Martindale, Jo, Rodgers, Tobias, Rao, Ganesh, Sarrigiannis, Ptolemaios, Shanmugaraja

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 621 KB

english, 2018

6

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

Tojima, Maya, Murakami, Gaku, Hikawa, Rie, Yamakado, Hodaka, Yamashita, Hirofumi, Takahashi, Ryosuke, Matsui, Masaru

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 254 KB

english, 2018

7

Development of a rapid functional assay that predicts GLUT1 disease severity

Zaman, Sasha M., Mullen, Saul A., Petrovski, Slavé, Maljevic, Snezana, Gazina, Elena V., Phillips, A. Marie, Jones, Gabriel Davis, Hildebrand, Michael S., Damiano, John, Auvin, Stéphane, Lerche, Holge

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 701 KB

english, 2018

8

Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH

Korhonen, Ville E., Helisalmi, Seppo, Jokinen, Aleksi, Jokinen, Ilari, Lehtola, Juha-Matti, Oinas, Minna, Lönnrot, Kimmo, Avellan, Cecilia, Kotkansalo, Anna, Frantzen, Janek, Rinne, Jaakko, Ronkainen,

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 346 KB

english, 2018

9

Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

Pulit, Sara L., Weng, Lu-Chen, McArdle, Patrick F., Trinquart, Ludovic, Choi, Seung Hoan, Mitchell, Braxton D., Rosand, Jonathan, de Bakker, Paul I. W., Benjamin, Emelia J., Ellinor, Patrick T., Kittn

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 482 KB

english, 2018

10

Screening of novel restless legs syndrome–associated genes in French-Canadian families

Akçimen, Fulya, Spiegelman, Dan, Dionne-Laporte, Alexandre, Gan-Or, Ziv, Dion, Patrick A., Rouleau, Guy A.

Journal:

Neurology: Genetics

Year:

2018

File:

PDF, 262 KB

2018

11

Delineating FOXG1 syndrome

Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertran

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 711 KB

english, 2018

12

Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation

Sim, Nam Suk, Seo, Youngsuk, Lim, Jae Seok, Kim, Woo Kyeong, Son, Hyeonju, Kim, Heung Dong, Kim, Sangwoo, An, Hyun Joo, Kang, Hoon-Chul, Kim, Se Hoon, Kim, Dong-Seok, Lee, Jeong Ho

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 812 KB

english, 2018

13

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

Journal:

Neurology: Genetics

Year:

2018

File:

PDF, 117 KB

2018

14

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype

Montes-Chinea, Nataly I., Guan, Zhuo, Coutts, Marcella, Vidal, Cecilia, Courel, Steve, Rebelo, Adriana P., Abreu, Lisa, Zuchner, Stephan, Littleton, J. Troy, Saporta, Mario A.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 810 KB

english, 2018

15

A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

Madigan, Nicolas N., Tracy, Jennifer A., Litchy, William J., Niu, Zhiyv, Chen, Chunhua, Ling, Kun, Milone, Margherita

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 505 KB

english, 2018

16

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 117 KB

english, 2018

17

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation

Deeb, Reem, Veerapandiyan, Aravindhan, Tawil, Rabi, Treidler, Simona

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 395 KB

english, 2018

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