Volume 3; Issue 6

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Neurology: Genetics
Volume 3; Issue 6

Neurology: Genetics

Volume 3; Issue 6

1

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

Shalash, Ali S., Rösler, Thomas W., Müller, Stefanie H., Salama, Mohamed, Deuschl, Günther, Müller, Ulrich, Opladen, Thomas, Petersen, Britt-Sabina, Franke, Andre, Hopfner, Franziska, Kuhlenbäumer, Gr

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 370 KB

english, 2017

2

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

Marini, Carla, Romoli, Michele, Parrini, Elena, Costa, Cinzia, Mei, Davide, Mari, Francesco, Parmeggiani, Lucio, Procopio, Elena, Metitieri, Tiziana, Cellini, Elena, Virdò, Simona, De Vita, Dalila, Ge

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 907 KB

english, 2017

3

Copy number variation analysis increases the diagnostic yield in muscle diseases

Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, de Munain, Adolfo Lopez, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 458 KB

english, 2017

4

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Mal

Journal:

Neurology: Genetics

Year:

2017

File:

PDF, 622 KB

2017

5

Factors influencing the age at onset in familial frontotemporal lobar dementia

Barbier, Mathieu, Camuzat, Agnès, Houot, Marion, Clot, Fabienne, Caroppo, Paola, Fournier, Clémence, Rinaldi, Daisy, Pasquier, Florence, Hannequin, Didier, Pariente, Jérémie, Larcher, Kathy, Brice, Al

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 201 KB

english, 2017

6

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

Bris, Celine, Rouaud, Tiphaine, Desquiret-Dumas, Valerie, Gueguen, Naig, Goudenege, David, Barth, Magalie, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Lebre, Anne-Sophi

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 294 KB

english, 2017

7

Na V channel variants in patients with painful and nonpainful peripheral neuropathy

Wadhawan, Samir, Pant, Saumya, Golhar, Ryan, Kirov, Stefan, Thompson, John, Jacobsen, Leslie, Qureshi, Irfan, Ajroud-Driss, Senda, Freeman, Roy, Simpson, David M., Smith, A. Gordon, Hoke, Ahmet, Brist

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 825 KB

english, 2017

8

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

Calhoun, Jeffrey D., Vanoye, Carlos G., Kok, Fernando, George, Alfred L., Kearney, Jennifer A.

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 354 KB

english, 2017

9

CDKL5 variants

Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S., Cobb, Stuart R.

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 453 KB

english, 2017

10

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada, Brunga, Ledia, Lamoureux, Sylvia, Pellecchia, Giovanna, Yuen, Ryan K.C., Faheem, Muhammad, Stavropoulos, Dimitri J., Drake, James, Hahn, Cecil D., Haw

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 684 KB

english, 2017

11

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

Botha, Hugo, Finch, NiCole A., Gavrilova, Ralitza H., Machulda, Mary M., Fields, Julie A., Lowe, Val J., Petersen, Ronald C., Jack, Clifford R., Dheel, Christina M., Gearhart, Debra J., Knopman, David

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 555 KB

english, 2017

12

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

Sommerville, Ewen W., Jones, Rachel L., Hardy, Steven A., Blakely, Emma L., Pyle, Angela, Schaefer, Andrew M., Chinnery, Patrick F., Turnbull, Douglass M., Gorman, Gráinne S., Taylor, Robert W.

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 345 KB

english, 2017