Results 61 to 70 of about 630 (120)

Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy

Movement Disorders, Volume 39, Issue 11, Page 2049-2057, November 2024.
We describe a new adult‐onset neurodegenerative disease in dogs, clinically exhibiting slowly progressive ataxia and histopathologically characterized as neuroaxonal dystrophy. Genetic analyses identified a 1‐bp (base pair) deletion in RNF170 revealing that these dogs represent a naturally occurring model for autosomal recessive spastic paraplegia 85 ...
Shawna R. Cook, Cleo Schwarz, Julien Guevar, Charles‐Antoine Assenmacher, Maeve Sheehy, Nathan Fanzone, Molly E. Church, Leonardo Murgiano, Margret L. Casal, Vidhya Jagannathan, Rodrigo Gutierrez‐Quintana, Mark Lowrie, Frank Steffen, Tosso Leeb, Kari J. Ekenstedt   +14 more
wiley   +1 more source

Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories.

, 2016
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Arber, C, Houlden, H, H. Houlden, C. E. Arber, S. Wray, Wray, S, A. Li, Li, A   +7 more
core   +1 more source

: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

, 2023
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia-parkinsonism, lower motor neuron signs, optic ...
DURAND, Christelle Marie, BURGLEN, Lydie, COUPRY, Isabelle, DEFORGES, Julie, FRISMAND, Solène, Christelle Marie Durand, RENAUD, Mathilde, ROUANET, Marie, MATHIS, Stéphane, MENEGON, Patrice, Stéphane Mathis, Victoria Gonzalez, Mathilde Renaud, FERGELOT, Patricia, Béatrice Desnous, Marie Rouanet, VITAL, Anne, Isabelle Coupry, Julie Deforges, Solène Frismand, Brigitte Chabrol, CHABROL, Brigitte, GOIZET, Cyril, STEVANIN, Giovanni, Chloé Angelini, Elizabeth Sarrazin, DESNOUS, Béatrice, Giovanni Stevanin, SARRAZIN, Elizabeth, BELLANCE, Remi, Patricia Fergelot, SCHMITT, Emmanuelle, Benoît Arveiler, Emmanuelle Schmitt, Lydie Burglen, ANGELINI, Chloe, Cyril Goizet, ARVEILER, Benoit, Patrice Menegon, GONZALEZ, Victoria, Anne Vital, Rémi Bellance   +41 more
core   +1 more source

Genetic research advance on neurodegeneration with brain iron accumulation

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Neurodegeneration with brain iron accumulation (NBIA) is a neurodegenerative disorder characterized by abnormal accumulation of iron in central nervous system.
Xiao-jun HUANG, Li CAO
doaj  

Analyse der \(\it WDR45\) und \(\it C19orf12\) Gene bei Neurodegeneration mit Eisenansammlung im Gehirn

, 2017
Der Begriff Neurodegeneration with Brain Iron Accumulation umfasst eine Gruppe heterogener neurodegenerativer Erkrankungen mit Störungen der Motorik, der Kognition und Eisenansammlungen im Gehirn.
Tschentscher, Anne
core  

Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.

, 2019
Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43).
Iseri, Sibel Aylin Ugur, ÖZBEK, Uğur, Iseri, Sibel Aylin, Mercan, Sevcan, Sozer, Nejla, Yapici, Zuhal, Ali, Asuman, Akcakaya, Nihan Hande, Tombul, Temel, Haryanyan, Garen   +9 more
core   +2 more sources

ePresentation

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Genotype–phenotype correlations in MPAN due to C19orf12 variants

Annals of Indian Academy of Neurology, 2021
Josef Finsterer
doaj   +1 more source

Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients

, 2019
Mutations in the same gene are sometimes the cause of different clinically diagnosed neurologic disorders; this emphasizes interrelationships between various neurologic diseases.
Khani, M., Alavi, Afagh, Kazemi, M.H., Nafissi, Shahriar, Nafissi, S., Khani, Marzieh, Elahi, Elahe, Zamani, Babak, Kazemi, Mohammad Hossein, MD, Shamshiri, Hosein, Hassanpour, H., Alavi, A., Elahi, E., Shamshiri, H., Zamani, B., Hassanpour, Hosein   +15 more
core  

Mitochondrial membrane protein-associated neurodegeneration due to novel homozygous mutation in the C19orf12 gene

Annals of Indian Academy of Neurology, 2021
Indar K Sharawat, Prateek K Panda, Poonam Sherwani, Vetoni Moirangthem   +3 more
doaj   +1 more source