Neurology

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
Sali M K Farhan, Jian Wang, John F Robinson, Asuri N Prasad, C Anthony Rupar, Victoria M Siu, FORGE Canada Consortium, Robert A Hegele

Journal of Medical Genetics Oct 2015, 52 (10) 666-675; DOI: 10.1136/jmedgenet-2015-103279
Charcot–Marie–Tooth diseases: an update and some new proposals for the classification
Stéphane Mathis, Cyril Goizet, Meriem Tazir, Corinne Magdelaine, Anne-Sophie Lia, Laurent Magy, Jean-Michel Vallat

Journal of Medical Genetics Oct 2015, 52 (10) 681-690; DOI: 10.1136/jmedgenet-2015-103272
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
Adam Hexter, Adrian Jones, Harry Joe, Laura Heap, Miriam J Smith, Andrew J Wallace, Dorothy Halliday, Allyson Parry, Amy Taylor, Lucy Raymond, Adam Shaw, Shazia Afridi, Rupert Obholzer, Patrick Axon, Andrew T King, The English Specialist NF2 Research Group, Jan M Friedman, D Gareth R Evans

Journal of Medical Genetics Oct 2015, 52 (10) 699-705; DOI: 10.1136/jmedgenet-2015-103290
Haplotype-based approach to known MS-associated regions increases the amount of explained risk
Pouya Khankhanian, Pierre-Antoine Gourraud, Antoine Lizee, Douglas S Goodin

Journal of Medical Genetics Sep 2015, 52 (9) 587-594; DOI: 10.1136/jmedgenet-2015-103071
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy
Anna Rajab, Markus Schuelke, Esther Gill, Angelika Zwirner, Franziska Seifert, Susanne Morales Gonzalez, Ellen Knierim

Journal of Medical Genetics Sep 2015, 52 (9) 607-611; DOI: 10.1136/jmedgenet-2015-103083
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Claudia Di Blasi, Serena Sansanelli, Alessandra Ruggieri, Manuela Moriggi, Michele Vasso, Adamo Pio D'Adamo, Flavia Blasevich, Simona Zanotti, Cecilia Paolini, Feliciano Protasi, Frediano Tezzon, Cecilia Gelfi, Lucia Morandi, Mauro Pessia, Marina Mora

Journal of Medical Genetics Sep 2015, 52 (9) 617-626; DOI: 10.1136/jmedgenet-2014-102882
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Wendy K Chung, Kimberly Martin, Chaim Jalas, Stephen R Braddock, Jane Juusola, Kristin G Monaghan, Barbara Warner, Samuel Franks, Marc Yudkoff, Lauren Lulis, Roy H Rhodes, Vinay Prasad, Erin Torti, Megan T Cho, Marwan Shinawi

Journal of Medical Genetics Sep 2015, 52 (9) 627-635; DOI: 10.1136/jmedgenet-2015-103140
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Curtis R Coughlin, Gunter H Scharer, Marisa W Friederich, Hung-Chun Yu, Elizabeth A Geiger, Geralyn Creadon-Swindell, Abigail E Collins, Arnaud V Vanlander, Rudy Van Coster, Christopher A Powell, Michael A Swanson, Michal Minczuk, Johan L K Van Hove, Tamim H Shaikh

Journal of Medical Genetics Aug 2015, 52 (8) 532-540; DOI: 10.1136/jmedgenet-2015-103049
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
Nadirah Damseh, Alexandre Simonin, Chaim Jalas, Joseph A Picoraro, Avraham Shaag, Megan T Cho, Barak Yaacov, Julie Neidich, Motee Al-Ashhab, Jane Juusola, Sherri Bale, Aida Telegrafi, Kyle Retterer, John G Pappas, Ellen Moran, Joshua Cappell, Kwame Anyane Yeboa, Bassam Abu-Libdeh, Matthias A Hediger, Wendy K Chung, Orly Elpeleg, Simon Edvardson

Journal of Medical Genetics Aug 2015, 52 (8) 541-547; DOI: 10.1136/jmedgenet-2015-103104
Pallister-Killian syndrome: a study of 22 British patients
Moira Blyth, Viv Maloney, Sarah Beal, Morag Collinson, Shuwen Huang, John Crolla, I Karen Temple, Diana Baralle

Journal of Medical Genetics Jul 2015, 52 (7) 454-464; DOI: 10.1136/jmedgenet-2014-102877

Main menu

Neurology

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Neurology

Pages