Movement Disorders (other than Parkinsons)

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca

Journal of Medical Genetics Aug 2019, 56 (8) 499-511; DOI: 10.1136/jmedgenet-2018-105766
Integrative network and brain expression analysis reveals mechanistic modules in ataxia
Ilse Eidhof, Bart P van de Warrenburg, Annette Schenck

Journal of Medical Genetics May 2019, 56 (5) 283-292; DOI: 10.1136/jmedgenet-2018-105703
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
Talya Dor, Yuval Cinnamon, Laure Raymond, Avraham Shaag, Naima Bouslam, Ahmed Bouhouche, Marion Gaussen, Vincent Meyer, Alexandra Durr, Alexis Brice, Ali Benomar, Giovanni Stevanin, Markus Schuelke, Simon Edvardson

Journal of Medical Genetics Feb 2014, 51 (2) 137-142; DOI: 10.1136/jmedgenet-2013-102012
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles
Dalyir I Pretto, Guadalupe Mendoza-Morales, Joyce Lo, Ru Cao, Andrew Hadd, Gary J Latham, Blythe Durbin-Johnson, Randi Hagerman, Flora Tassone

Journal of Medical Genetics May 2014, 51 (5) 309-318; DOI: 10.1136/jmedgenet-2013-102021
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Thierry Vilboux, May Christine V Malicdan, Yun Min Chang, Jennifer Guo, Patricia M Zerfas, Joshi Stephen, Andrew R Cullinane, Joy Bryant, Roxanne Fischer, Brian P Brooks, Wadih M Zein, Edythe A Wiggs, Christopher K Zalewski, Andrea Poretti, Melanie M Bryan, Meghana Vemulapalli, James C Mullikin, Martha Kirby, Stacie M Anderson, NISC Comparative Sequencing Program, Marjan Huizing, Camilo Toro, William A Gahl, Meral Gunay-Aygun

Journal of Medical Genetics May 2016, 53 (5) 318-329; DOI: 10.1136/jmedgenet-2015-103416
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn CJ Jongmans, Tjitske Kleefstra, Bart P van de Warrenburg, Peter Praamstra, Joost Nicolai, Helger G Yntema, René JM Bindels, Miriam H Meisler, Erik-Jan Kamsteeg

Journal of Medical Genetics May 2015, 52 (5) 330-337; DOI: 10.1136/jmedgenet-2014-102813
A new seipin-associated neurodegenerative syndrome
Encarna Guillén-Navarro, Sofía Sánchez-Iglesias, Rosario Domingo-Jiménez, Berta Victoria, Alejandro Ruiz-Riquelme, Alberto Rábano, Lourdes Loidi, Andrés Beiras, Blanca González-Méndez, Adriana Ramos, Vanesa López-González, María Juliana Ballesta-Martínez, Miguel Garrido-Pumar, Pablo Aguiar, Alvaro Ruibal, Jesús R Requena, David Araújo-Vilar

Journal of Medical Genetics Jun 2013, 50 (6) 401-409; DOI: 10.1136/jmedgenet-2013-101525
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Suk Kang, Paola Giunti, Arron Cook, Laszlo Baliko, Melegh Bela, Sylvia Boesch, Sandra Szymanski, José Berciano, Jon Infante, Katrin Buerk, Marcella Masciullo, Roberto Di Fabio, Chantal Depondt, Susanne Ratka, Giovanni Stevanin, Thomas Klockgether, Alexis Brice, Jean-Louis Golmard

Journal of Medical Genetics Jul 2014, 51 (7) 479-486; DOI: 10.1136/jmedgenet-2013-102200
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Ludovica Verdun di Cantogno, Enrico Grosso, Simona Cavalieri, Alessandro Calcia, Daniela Lacerenza, Orsetta Zuffardi, Saverio Francesco Retta, Giovanni Stevanin, Cecilia Marelli, Alexandra Durr, Sylvie Forlani, Jamel Chelly, Francesca Montarolo, Filippo Tempia, Hilary E Beggs, Robin Reed, Stefania Squadrone, Maria C Abete, Alessandro Brussino, Natascia Ventura, Ferdinando Di Cunto, Alfredo Brusco

Journal of Medical Genetics Aug 2013, 50 (8) 543-551; DOI: 10.1136/jmedgenet-2013-101542
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda, Kumi Sakoe, Tametou Naoi, Michito Namekawa, Yoko Fukuda, Yuji Takahashi, Jun Goto, Shoji Tsuji, Yu-ichi Goto, Imaharu Nakano, and Japan Spastic Paraplegia Research Consortium (JASPAC)

Journal of Medical Genetics Dec 2012, 49 (12) 777-784; DOI: 10.1136/jmedgenet-2012-101212

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Movement Disorders (other than Parkinsons)