Insights From Genetic Studies of Cerebral Palsy

by Sara A. Lewis, Sara A. Lewis, Sheetal Shetty, Sheetal Shetty, Bryce A. Wilson, Bryce A. Wilson, Aris J. Huang, Sheng Chih Jin, Hayley Smithers-Sheedy, Michael C. Fahey, Michael C. Kruer, Michael C. Kruer, Michael C. Kruer
Published 2021-01-01

Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome

by Ivana Dzinovic, Matej Škorvánek, Petra Pavelekova, Chen Zhao, Boris Keren, Sandra Whalen, Somayeh Bakhtiari, Sheng Chih Jin, Michael C. Kruer, Robert Jech, Juliane Winkelmann, Michael Zech
Published 2021-04-01

Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome

by Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer
Published 2015-07-01

Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities

by Michelle Stewart, Petrina Lau, Gareth Banks, Rasneer Sonia Bains, Enrico Castroflorio, Peter L. Oliver, Christine L. Dixon, Michael C. Kruer, Dimitri M. Kullmann, Abraham Acevedo-Arozena, Sara E. Wells, Silvia Corrochano, Patrick M. Nolan
Published 2019-02-01

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

by Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
Published 2019-07-01

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

by Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
Published 2019-10-01