Results 131 to 140 of about 754 (163)

Large-strain anisotropic behavior of meat during cooking: A finite element study. [PDF]

Curr Res Food Sci
Grasa J, Teresi L, van der Sman R.
europepmc   +1 more source

Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options. [PDF]

Life (Basel)
Ceraolo G, Spoto G, Consoli C, Modafferi E, Di Rosa G, Nicotera AG.   +5 more
europepmc   +1 more source

When Pathways Converge: Iron, Lipid Peroxidation, and α-Synuclein in Ferroptosis-Driven Dopaminergic Neurodegeneration. [PDF]

J Neurochem
Sperlich CL, Stockwell BR, Farina M.
europepmc   +1 more source

Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

International Review of Neurobiology, 2013
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare and devastating disorders characterized by iron deposition in the brain. Mutations in C19orf12 cause autosomal recessive inherited mitochondrial membrane protein-associated neurodegeneration (MPAN), which may account for up to 30% of NBIA cases.
Holger Prokisch, Thomas Meitinger, Thomas Klopstock   +2 more
exaly   +6 more sources

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

Parkinsonism and Related Disorders, 2017
Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported.We sequenced the entire coding region of ...
Simone Olgiati, Okan Dogu, Zeynep Tufekcioglu   +2 more
exaly   +6 more sources

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform [PDF]

Parkinsonism and Related Disorders, 2021
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define loss of function mutations located in the putative non-membrane spanning C19orf12 isoform as the ...
Olivia J Rickman, Claire G Salter, James Fasham   +2 more
exaly   +4 more sources

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN) [PDF]

Neurocase, 2016
Young onset dementias present significant diagnostic challenges. We present the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia, memory loss, hypereflexia, and Parkinsonism. Brain MRI showed bilateral symmetric gradient echo hypointensities in the globi pallidi and substantiae nigrae.
Brian S Appleby, Mark L Cohen, Suzanne D Debrosse   +2 more
exaly   +6 more sources

A de novo C19orf12 heterozygous mutation in a patient with MPAN [PDF]

Parkinsonism and Related Disorders, 2018
Edoardo Monfrini, Valentina Melzi, Giulia Franco   +2 more
exaly   +2 more sources

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MPAN: Multi-parallel attention network for session-based recommendation

Neurocomputing, 2022
Abstract A powerful session-based recommender can typically explore the users’ evolving interests (i.e., a combination of her long-term and short-term interests). Recent advances in attention mechanisms have led to state-of-the-art methods for solving this task. However, there are still three main limitations.
Tianzi Zang, Yanmin Zhu 0006, Jing Zhu, Yanan Xu, Haobing Liu 0001   +4 more
openaire   +1 more source

Cardiac disease in mitochondrial membrane protein-associated neurodegeneration (MPAN) due to variants in C19orf12

Parkinsonism and Related Disorders, 2021
Josef Finsterer
exaly   +3 more sources