Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease

por Pedroso, José Luiz, Rocha, Clarissa R.R., Macedo-Souza, Lucia I., De Mario, Vitor, Marques, Wilson, Barsottini, Orlando G.P., Bulle Oliveira, Acary S., Menck, Carlos F.M., Kok, Fernando
Publicado 2015

Novel GABRG2 mutations cause familial febrile seizures

por Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie
Publicado 2015

LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

por Angelini, Corrado I.
Publicado 2015

Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation

por Martikainen, Mika H., Päivärinta, Markku, Hietala, Marja, Kaasinen, Valtteri
Publicado 2015

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing

por Izumi, Rumiko, Niihori, Tetsuya, Takahashi, Toshiaki, Suzuki, Naoki, Tateyama, Maki, Watanabe, Chigusa, Sugie, Kazuma, Nakanishi, Hirotaka, Sobue, Gen, Kato, Masaaki, Warita, Hitoshi, Aoki, Yoko, Aoki, Masashi
Publicado 2015

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

por Schottmann, Gudrun, Seelow, Dominik, Seifert, Franziska, Morales-Gonzalez, Susanne, Gill, Esther, von Au, Katja, von Moers, Arpad, Stenzel, Werner, Schuelke, Markus
Publicado 2015

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

por de Filette, Jeroen, Hasaerts, Danielle, Seneca, Sara, Gheldof, Alexander, Stouffs, Katrien, Keymolen, Kathelijn, Velkeniers, Brigitte
Publicado 2016

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

por Okuma, Hidehiko, Saito, Fumiaki, Mitsui, Jun, Hara, Yuji, Hatanaka, Yuki, Ikeda, Miki, Shimizu, Teruo, Matsumura, Kiichiro, Shimizu, Jun, Tsuji, Shoji, Sonoo, Masahiro
Publicado 2016

Genetics of neurodegenerative diseases

por Pulst, Stefan M.
Publicado 2016

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

por Hall, Deborah A., Robertson-Dick, Erin E., O'Keefe, Joan A., Hadd, Andrew G., Zhou, Lili, Berry-Kravis, Elizabeth
Publicado 2016

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

por Rodan, Lance H., Zak, Maria, Stavropoulos, James, Joseph-George, Ann M., Minassian, Berge A.
Publicado 2016

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

por Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina
Publicado 2016

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

por Mano, Kagari Koshi, Matsukawa, Takashi, Mitsui, Jun, Ishiura, Hiroyuki, Tokushige, Shin-ichi, Takahashi, Yuji, Sato, Naoko Saito, Nakamoto, Fumiko Kusunoki, Ichikawa, Yaeko, Nagashima, Yu, Terao, Yasuo, Shimizu, Jun, Hamada, Masashi, Uesaka, Yoshikazu, Oyama, Genko, Ogawa, Go, Yoshimura, Jun, Doi, Koichiro, Morishita, Shinichi, Tsuji, Shoji, Goto, Jun
Publicado 2016

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants

por Nuytemans, Karen, Maldonado, Lizmarie, Ali, Aleena, John-Williams, Krista, Beecham, Gary W., Martin, Eden, Scott, William K., Vance, Jeffery M.
Publicado 2016

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

por Ferreira, Patrick, Luco, Stephanie M., Sawyer, Sarah L., Davila, Jorge, Boycott, Kym M., Dyment, David A.
Publicado 2015

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

por Ameur, Fatima, Colliot, Olivier, Caroppo, Paola, Ströer, Sebastian, Dormont, Didier, Brice, Alexis, Azuar, Carole, Dubois, Bruno, Le Ber, Isabelle, Bertrand, Anne
Publicado 2016

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

por Oliver, Karen L., Lukic, Vesna, Freytag, Saskia, Scheffer, Ingrid E., Berkovic, Samuel F., Bahlo, Melanie
Publicado 2016

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

por de Gusmao, Claudio M., Kok, Fernando, Casella, Erasmo Barbante, Waugh, Jeff L.
Publicado 2015

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

por Kohli, Martin A., Cukier, Holly N., Hamilton-Nelson, Kara L., Rolati, Sophie, Kunkle, Brian W., Whitehead, Patrice L., Züchner, Stephan L., Farrer, Lindsay A., Martin, Eden R., Beecham, Gary W., Haines, Jonathan L., Vance, Jeffery M., Cuccaro, Michael L., Gilbert, John R., Schellenberg, Gerard D., Carney, Regina M., Pericak-Vance, Margaret A.
Publicado 2016

Expanding the ataxia with oculomotor apraxia type 4 phenotype

por Paucar, Martin, Malmgren, Helena, Taylor, Malcolm, Reynolds, John J., Svenningsson, Per, Press, Rayomand, Nordgren, Ann
Publicado 2016