Cargando…

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

Detalles Bibliográficos
Autores principales:	Marelli, Cecilia, Hamel, Christian, Quiles, Melanie, Carlander, Bertrand, Larrieu, Lise, Delettre, Cecile, Sarzi, Emmanuelle, Chretien, Dominique, Rustin, Pierre, Koenig, Michel, Guissart, Claire
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2018
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860906/ https://www.ncbi.nlm.nih.gov/pubmed/29564393 http://dx.doi.org/10.1212/NXG.0000000000000225

Ejemplares similares

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
por: Roubertie, Agathe, et al.
Publicado: (2019)

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
por: Bouwkamp, Christian G., et al.
Publicado: (2018)

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
por: Tozawa, Takenori, et al.
Publicado: (2021)

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model
por: Sarzi, Emmanuelle, et al.
Publicado: (2018)

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
por: Dad, Rubina, et al.
Publicado: (2017)

Hereditary Spastic Paraplegia: An Update
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Dominant optic atrophy
por: Lenaers, Guy, et al.
Publicado: (2012)

AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria
por: Carmona, Susana, et al.
Publicado: (2018)

Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2011)

Lipids in the Physiopathology of Hereditary Spastic Paraplegias
por: Darios, Frédéric, et al.
Publicado: (2020)

Movement disorders in hereditary spastic paraplegias
por: Pedroso, Jose Luiz, et al.
Publicado: (2023)

Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
por: Regensburger, Martin, et al.
Publicado: (2022)

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
por: Mahungu, Amokelani C., et al.
Publicado: (2022)

Hereditary spastic paraplegia with thin corpus callosum
por: Raina, Sujeet, et al.
Publicado: (2009)

JASPAC: Japan Spastic Paraplegia Research Consortium
por: Koh, Kishin, et al.
Publicado: (2018)

Lysosome Function and Dysfunction in Hereditary Spastic Paraplegias
por: Edmison, Daisy, et al.
Publicado: (2021)

ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia
por: Sonda, Sonia, et al.
Publicado: (2021)

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia
por: Tadepalle, Nimesha, et al.
Publicado: (2021)

Dysarthria in hereditary spastic paraplegia type 4
por: Jacinto-Scudeiro, Lais Alves, et al.
Publicado: (2022)

A New Reflex Sign in Spastic Paraplegia
Publicado: (1918)

Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11
por: Rajakulendran, Sanjeev, et al.
Publicado: (2011)

Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia
por: Utz, Kathrin S., et al.
Publicado: (2022)

Developmental and Degenerative Features in a Complicated Spastic Paraplegia
por: Manzini, M Chiara, et al.
Publicado: (2010)

Somatosensory Conduction Pathway in Spastic Paraplegia Type 5
por: Vanotti, Alessandra, et al.
Publicado: (2014)

Genetic and phenotypic characterization of complex hereditary spastic paraplegia
por: Kara, Eleanna, et al.
Publicado: (2016)

Clinical and genetic study of hereditary spastic paraplegia in Canada
por: Chrestian, Nicolas, et al.
Publicado: (2016)

Expanded phenotype in a patient with spastic paraplegia 7
por: Gass, Jennifer, et al.
Publicado: (2017)

Clinical Trial Designs and Measures in Hereditary Spastic Paraplegias
por: Trummer, Brian, et al.
Publicado: (2018)

Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children
por: Kamate, Mahesh, et al.
Publicado: (2019)

Pure or Complex Hereditary Spastic Paraplegia Type 4?
por: Finsterer, Josef
Publicado: (2019)

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia
por: Saputra, Lydia, et al.
Publicado: (2021)

Hereditary spastic paraplegia initially diagnosed as cerebral palsy
por: Suchowersky, Oksana, et al.
Publicado: (2021)

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Paving a way to treat spastic paraplegia 50
por: Brent, Jonathan R., et al.
Publicado: (2023)

Presynaptic endoplasmic reticulum architecture and hereditary spastic paraplegia
por: Pérez-Moreno, Juan José
Publicado: (2023)

Selective Dorsal Rhizotomy for Treatment of Hereditary Spastic Paraplegia-Associated Spasticity in 37 Patients
por: Park, TS, et al.
Publicado: (2021)

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
por: Charif, Majida, et al.
Publicado: (2021)

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia
por: Naef, Valentina, et al.
Publicado: (2019)

New spastic paraplegia phenotype associated to mutation of NFU1
por: Tonduti, Davide, et al.
Publicado: (2015)

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
por: Yahikozawa, Hiroyuki, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_3rn57eljp76i2e7vrd05lhugnd