R. Roda

发表

PML-IRIS in patients with HIV infection

J. McArthur, A. Nath, L. Ostrow, 2009, Neurology.

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

Andreas S Barth, A. Corse, Andreas S. Barth, 2021, Annals of clinical and translational neurology.

Increased frequency of rhabdomyolysis in familial dysautonomia

H. Kaufmann, J. Palma, L. Norcliffe-Kaufmann, 2015, Muscle & nerve.

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

C. Blackstone, S. Züchner, A. Dürr, 2015, Human molecular genetics.

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

C. Blackstone, A. Schindler, C. Rinaldi, 2014, Journal of Clinical Neuroscience.

Large Mitochondrial DNA Deletions in HIV Sensory Neuropathy

D. Clifford, R. Ellis, J. McArthur, 2021, Neurology.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

J. Liepert, C. Blackstone, S. Züchner, 2016, Neurology: Genetics.

The association between educational attainment and SCA 3 age of onset and disease course

Kelly A. Mills, D. Zee, C. Marvel, 2022, Parkinsonism & Related Disorders.

Epilepsy and temporal lobe injury after skull base proton beam therapy

G. Gallia, C. Eberhart, J. Laterra, 2009, Journal of Clinical Neuroscience.

A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.

A. Hoke, M. Iijima, C. Grunseich, 2022, Journal of neuromuscular diseases.

Rhodococcus equi pulmonary-central nervous system syndrome: brain abscess in a patient on high-dose steroids--a case report and review of the literature.

M. Young, J. Timpone, R. Roda, 2009, Diagnostic microbiology and infectious disease.

Role of the Reverse Transcriptase, Nucleocapsid Protein, and Template Structure in the Two-step Transfer Mechanism in Retroviral Recombination*

B. Roques, R. Gorelick, S. L. Le Grice, 2003, Journal of Biological Chemistry.

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

P. Reddy, T. Kensler, M. Iijima, 2012, The Journal of cell biology.

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

C. Blauwendraat, A. Chiò, B. Traynor, 2022, Proceedings of the National Academy of Sciences.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

SCA8 should not be tested in isolation for ataxia

C. Blackstone, A. Schindler, R. Roda, 2017, Neurology: Genetics.

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy

C. Klein, A. Hoke, Brett A. McCray, 2018, Neurology: Genetics.

Multigeneration family with dominant SPG30 hereditary spastic paraplegia

C. Blackstone, A. Schindler, R. Roda, 2017, Annals of clinical and translational neurology.

Myopathy: Recent Progress, Current Therapies, and Future Directions

A. Mammen, D. Leung, R. Roda, 2018, Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.

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

S. Rutkove, T. Lloyd, B. Roy, 2020, Journal of the Neurological Sciences.

Strand Transfer Occurs in Retroviruses by a Pause-initiated Two-step Mechanism*

B. Roques, R. Bambara, M. Balakrishnan, 2002, The Journal of Biological Chemistry.

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

K. Fischbeck, T. Crawford, P. Calabresi, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Laing distal myopathy pathologically resembling inclusion body myositis

A. Mammen, C. Blackstone, T. Lloyd, 2014, Annals of clinical and translational neurology.

Mitochondrial dysfunction in HIV-induced peripheral neuropathy.

A. Hoke, R. Roda, 2019, International review of neurobiology.

Stopping oral steroid-sparing agents at initiation of rituximab in myasthenia gravis

Leana Doherty, A. Corse, R. Roda, 2019, Neuromuscular Disorders.

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

C. Blackstone, E. FitzGibbon, A. Schindler, 2016, Annals of clinical and translational neurology.

Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons.

C. Blackstone, Yongchao Mou, Xue-Jun Li, 2022, Brain : a journal of neurology.

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

C. Blackstone, A. Schindler, R. Roda, 2017, Annals of clinical and translational neurology.

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

Thomas J. Smith, C. Pardo, R. Roda, 2022, Cureus.

Faculty Opinions recommendation of Skin blister and skin biopsy to quantify epidermal nerves: a comparative study.

R. Roda, Thien A Nguyen, 2009 .