Volume 6; Issue 5

Main
Neurology: Genetics
Volume 6; Issue 5

Neurology: Genetics

Volume 6; Issue 5

1

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

Motley, William W., ZÃ¼chner, Stephan, Scherer, Steven S.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 1.39 MB

2020

2

D-DEMÃ, a distinct phenotype caused by ATP1A3 mutations

Prange, Lyndsey, Pratt, Milton, Herman, Kristin, Schiffmann, Raphael, Mueller, David M., McLean, Melissa, Mendez, Mary Moya, Walley, Nicole, Heinzen, Erin L., Goldstein, David, Shashi, Vandana, Hunany

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 586 KB

2020

3

LINS1 -associated neurodevelopmental disorder

Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 433 KB

2020

4

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

Monfrini, Edoardo, Ronchi, Dario, Franco, Giulia, Garbellini, Manuela, Straniero, Letizia, Scola, Elisa, Arienti, Federica, Duga, Stefano, Comi, Giacomo Pietro, Bresolin, Nereo, Di Fonzo, Alessio

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 467 KB

2020

5

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

Robak, Laurie A., Du, Renqian, Yuan, Bo, Gu, Shen, Alfradique-Dunham, Isabel, Kondapalli, Vismaya, Hinojosa, Evelyn, Stillwell, Amanda, Young, Emily, Zhang, Chaofan, Song, Xiaofei, Du, Haowei, Gambin,

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 1.11 MB

2020

6

Genetic risk scores and hallucinations in patients with Parkinson disease

Kusters, Cynthia D.J., Paul, Kimberly C., Duarte Folle, Aline, Keener, Adrienne M., Bronstein, Jeff M., Dobricic, Valerija, Tysnes, Ole-BjÃ¸rn, Bertram, Lars, Alves, Guido, Sinsheimer, Janet S., Lill,

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 222 KB

2020

7

Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation

Jih, Kang-Yang, Tsai, Pei-Chien, Tsai, Yu-Shuen, Liao, Yi-Chu, Lee, Yi-Chung

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 230 KB

2020

8

Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke

Mo, Xing-Bo, Zhang, Huan, Wang, Ai-Li, Xu, Tan, Zhang, Yong-Hong

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 998 KB

2020

9

Childhood-onset epileptic encephalopathy due to FGF12 exon 1â4 tandem duplication

Verheyen, Sarah, Speicher, Michael R., Ramler, Barbara, Plecko, Barbara

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 424 KB

2020

10

Neuraxial dysraphism in EPAS1 -associated syndrome due to improper mesenchymal transition

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 124 KB

2020

11

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

Miller, Jacob N., van der Plas, Ellen, Hamilton, Mark, Koscik, Timothy R., Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 362 KB

2020

12

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

MendonÃ§a, Rodrigo de Holanda, Matsui, Ciro, Polido, Graziela Jorge, Silva, AndrÃ© Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurge

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 453 KB

2020

13

Disease duration in autosomal dominant familial Alzheimer disease

Pavisic, Ivanna M., Nicholas, Jennifer M., O'Connor, Antoinette, Rice, Helen, Lu, Kirsty, Fox, Nick C., Ryan, Natalie S.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 460 KB

2020

14

KCNQ2 encephalopathy manifesting with Rett-like features

Mastrangelo, Mario, Manti, Filippo, Giannini, Maria Teresa, Guerrini, Renzo, Leuzzi, Vincenzo

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 410 KB

2020

15

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene

Brusa, Roberta, Mauri, Eleonora, DellâArti, Laura, Magri, Francesca, Ronchi, Dario, Minorini, Valeria, Mainetti, Claudia, Gagliardi, Delia, Faravelli, Irene, Meneri, Megi, Bresolin, Nereo, Viola, Fr

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 377 KB

2020

16

Manifesting carriers of X-linked myotubular myopathy

Souza, Lucas Santos, Almeida, Camila Freitas, Yamamoto, Guilherme Lopes, Pavanello, Rita de CÃ¡ssia Mingroni, Gurgel-Giannetti, Juliana, da Costa, Silvia Souza, Anequini, Isabela Pessa, do Carmo, Silv

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 305 KB

2020

17

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

Odake, Yasuko, Koh, Kishin, Takiyama, Yoshihisa, Ishiura, Hiroyuki, Tsuji, Shoji, Yamada, Masahito, Yoshita, Mitsuhiro

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 514 KB

2020

18

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

Balicza, Peter, Bencsik, Renata, Lengyel, Andras, Gal, Aniko, Grosz, Zoltan, Csaban, Dora, Rudas, Gabor, Danics, Krisztina, Kovacs, Gabor G., Molnar, Maria Judit

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 866 KB

2020

19

Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan

Walhovd, Kristine B., Fjell, Anders M., SÃ¸rensen, Ãystein, Mowinckel, Athanasia Monika, Reinbold, CÃ©line Sonja, Idland, Ane-Victoria, Watne, Leiv Otto, Franke, Andre, Dobricic, Valerija, Kilpert, F

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 412 KB

2020

20

Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia

Tang, Man-Hung Eric, Blair, Joseph P.M., Bager, Cecilie Liv, Bay-Jensen, Anne-Christine, Henriksen, Kim, Christiansen, Claus, Karsdal, Morten Asser

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 789 KB

2020

21

Late-onset vs nonmendelian early-onset Alzheimer disease

Reitz, Christiane, Rogaeva, Ekaterina, Beecham, Gary W.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 226 KB

2020

22

Genetic risk for Alzheimer disease affects the brain throughout the lifespan

Linden, David E.J.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 150 KB

2020