A case of primary optic pathway demyelination caused by oncocytic oligodendrogliopathy of unknown origin

[1]  J. Moffett,et al.  The pathogenesis of, and pharmacological treatment for, Canavan disease. , 2022, Drug discovery today.

[2]  S. Dubey,et al.  Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy—A New Intermediate Phenotype , 2022, Annals of Indian Academy of Neurology.

[3]  Jiewen Zhang,et al.  Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families , 2022, Neurological Sciences.

[4]  A. Vanderver,et al.  Imaging Patterns Characterizing Mitochondrial Leukodystrophies , 2021, American Journal of Neuroradiology.

[5]  M. Turner,et al.  Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS–TDP , 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

[6]  T. Strom,et al.  Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy , 2021, The Journal of clinical investigation.

[7]  I. Ferrer,et al.  Familial globular glial tauopathy linked to MAPT mutations: molecular neuropathology and seeding capacity of a prototypical mixed neuronal and glial tauopathy , 2020, Acta Neuropathologica.

[8]  Q. Zou,et al.  Relationship between parathyroid oxyphil cell proportion and clinical characteristics of patients with chronic kidney disease , 2019, International Urology and Nephrology.

[9]  R. Bowman,et al.  Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches , 2018, European Journal of Human Genetics.

[10]  A. Vanderver,et al.  Adulthood leukodystrophies , 2018, Nature Reviews Neurology.

[11]  P. Chinnery,et al.  A multiple sclerosis‐like disorder in patients with OPA1 mutations , 2016, Annals of clinical and translational neurology.

[12]  S. Ludwin,et al.  Oligodendrogliopathy in Multiple Sclerosis: Low Glycolytic Metabolic Rate Promotes Oligodendrocyte Survival , 2016, The Journal of Neuroscience.

[13]  Anne Bernard,et al.  A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma , 2016, Journal of Clinical Pathology.

[14]  H. Blum,et al.  Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genes. , 2014, The American journal of pathology.

[15]  O. Ciccarelli,et al.  MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis , 2014, Journal of Neurology, Neurosurgery & Psychiatry.

[16]  P. Chinnery,et al.  Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations , 2013, Neurology.

[17]  A. Petzold.  Intrathecal oligoclonal IgG synthesis in multiple sclerosis , 2013, Journal of Neuroimmunology.

[18]  E. Bonora,et al.  Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number. , 2013, Human pathology.

[19]  Cuprizone-Induced Demyelination as a Tool to Study Remyelination and Axonal Protection , 2013, Journal of Molecular Neuroscience.

[20]  J. Finsterer,et al.  Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia , 2012, Acta Neuropathologica.

[21]  J. Newcombe,et al.  Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathies , 2011, Acta Neuropathologica.

[22]  H. Lassmann,et al.  Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes , 2010, Glia.

[23]  A. Echaniz-Laguna,et al.  POLG1 variations presenting as multiple sclerosis. , 2010, Archives of neurology.

[24]  K. Jellinger,et al.  Multiple system atrophy: A primary oligodendrogliopathy , 2008, Annals of neurology.

[25]  Hans Lassmann,et al.  Mitochondrial defects in acute multiple sclerosis lesions , 2008, Brain : a journal of neurology.

[26]  H. Budka,et al.  Neuropathology of white matter disease in Leber's hereditary optic neuropathy. , 2004, Brain : a journal of neurology.

[27]  P. Vermersch,et al.  CSF isoelectrofocusing in a large cohort of MS and other neurological diseases , 2004, European journal of neurology.

[28]  M. Tulinius,et al.  Mitochondrial Encephalomyopathies , 2003, Journal of neuropathology and experimental neurology.

[29]  J. Grosgeorge,et al.  Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy , 2000, Nature Genetics.

[30]  S. Bhattacharya,et al.  OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 , 2000, Nature Genetics.

[31]  J. Parisi,et al.  Heterogeneity of multiple sclerosis lesions: Implications for the pathogenesis of demyelination , 2000, Annals of neurology.

[32]  E. Shoubridge,et al.  Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy , 1998, Neurology.

[33]  D. Mackey,et al.  Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. , 1996, American journal of human genetics.

[34]  J. Christodoulou,et al.  Leigh syndrome: Clinical features and biochemical and DNA abnormalities , 1996, Annals of neurology.

[35]  M. Knaap,et al.  Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings , 1996, Journal of the Neurological Sciences.

[36]  S. Tsunoda,et al.  Anaplastic astrocytoma of an oncocytic type occurring in the cerebellar vermis in Pierre Robin syndrome--case report. , 1992, Neurologia medico-chirurgica.

[37]  D R Johns,et al.  An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. , 1992, Biochemical and biophysical research communications.

[38]  W. Mcdonald,et al.  Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. , 1992, Brain : a journal of neurology.

[39]  K. Huoponen,et al.  A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. , 1991, American journal of human genetics.

[40]  D. Wallace,et al.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.

[41]  G. Ponsot,et al.  KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION , 1988, The Lancet.

[42]  A. Harding,et al.  The clinical features of mitochondrial myopathy. , 1986, Brain : a journal of neurology.

[43]  L. Kline,et al.  Dominant optic atrophy. The clinical profile. , 1979, Archives of ophthalmology.

[44]  P. Kjer.  Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. , 1959, Acta ophthalmologica. Supplementum.