SCA8 should not be tested in isolation for ataxia

por Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Publicado 2017

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

por Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Publicado 2017

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

por Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Publicado 2017

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy

por Roda, Ricardo H., McCray, Brett A., Klein, Christopher J., Hoke, Ahmet
Publicado 2018

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

por Roda, Ricardo H., FitzGibbon, Edmond J., Boucekkine, Houda, Schindler, Alice B., Blackstone, Craig
Publicado 2016

Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy

por Scott Binder, M., Roda, Ricardo H., Corse, Andrea M., Sidhu, Sunjeet, Stewart, Sarah, Barth, Andreas S.
Publicado 2021

Successful Treatment of Paraneoplastic Neuropathy and Pruritis With Scrambler Therapy: A Case Report

por Murphy, Tyler K, Pardo, C A, Roda, Ricardo H, Stone, Rebecca L, Smith, Thomas J
Publicado 2022

Teleneurology during the COVID-19 pandemic: A step forward in modernizing medical care

por Roy, Bhaskar, Nowak, Richard J., Roda, Ricardo, Khokhar, Babar, Patwa, Huned S., Lloyd, Thomas, Rutkove, Seward B.
Publicado 2020

Laing distal myopathy pathologically resembling inclusion body myositis

por Roda, Ricardo H, Schindler, Alice B, Blackstone, Craig, Mammen, Andrew L, Corse, Andrea M, Lloyd, Thomas E
Publicado 2014

Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage

por Kageyama, Yusuke, Zhang, Zhongyan, Roda, Ricardo, Fukaya, Masahiro, Wakabayashi, Junko, Wakabayashi, Nobunao, Kensler, Thomas W., Reddy, P. Hemachandra, Iijima, Miho, Sesaki, Hiromi
Publicado 2012

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

por Hirst, Jennifer, Edgar, James R., Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H., Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C., Robinson, Margaret S.
Publicado 2015

Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study

por Chia, Ruth, Saez-Atienzar, Sara, Murphy, Natalie, Chiò, Adriano, Blauwendraat, Cornelis, Roda, Ricardo H., Tienari, Pentti J., Kaminski, Henry J., Ricciardi, Roberta, Guida, Melania, De Rosa, Anna, Petrucci, Loredana, Evoli, Amelia, Provenzano, Carlo, Drachman, Daniel B., Traynor, Bryan J.
Publicado 2022

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

por Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Publicado 2016

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

por Grunseich, Christopher, Sarkar, Nathan, Lu, Joyce, Owen, Mallory, Schindler, Alice, Calabresi, Peter A, Sumner, Charlotte J, Roda, Ricardo H, Chaudhry, Vinay, Lloyd, Thomas E, Crawford, Thomas O, Subramony, S H, Oh, Shin J, Richardson, Perry, Tanji, Kurenai, Kwan, Justin Y, Fischbeck, Kenneth H, Mankodi, Ami
Publicado 2021