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http://scihub22266oqcxt.onion/ C5953233!5953233!29770363     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Acta+Myol 2017 ; 36 (4): 203-6 Nephropedia Template TP {{tp|p=29770363|t=2017. The multifaceted clinical presentation of VCP-proteinopathy in a Greek family |pdf=|usr=}}{{29770363}} gab.com Text The multifaceted clinical presentation of VCP-proteinopathy in a Greek family JO: Acta Myol http://www.kidney.de/pget.php?&tw=1&pmid=29770363 #FOAvip VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy. Family history was positive and several members of the family had been diagnosed with motor neuron disease, dementia or behavioral symptoms. Sequencing of the VCP gene revealed a pathogenic heterozygous missense mutation p.R159H. Conclusively, the present report highlights the intrafamilial variability and broadens the phenotypic spectrum of VCP-proteinopathy. Twit Text FOAVip The multifaceted clinical presentation of VCP-proteinopathy in a Greek family ????Acta Myol http://www.kidney.de/pget.php?&tw=1&pmid=29770363 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29770363 #FOAvip English Wikipedia <ref>{{Cite pmid|29770363}}</ref> The multifaceted clinical presentation of VCP-proteinopathy in a Greek family #MMPMID29770363 PAPADIMAS GK; PARASKEVAS GP; ZAMBELIS T; KARAGIAOURIS C; BOURBOULI M; BOUGEA A; WALTER MC; SCHUMACHER NU; KRAUSE S; KAPAKI E Acta Myol 2017[Dec]; 36 (4): 203-6 PMID29770363show ga VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy. Family history was positive and several members of the family had been diagnosed with motor neuron disease, dementia or behavioral symptoms. Sequencing of the VCP gene revealed a pathogenic heterozygous missense mutation p.R159H. Conclusively, the present report highlights the intrafamilial variability and broadens the phenotypic spectrum of VCP-proteinopathy. äThe multifaceted clinical presentation of VCP-proteinopathy in a Greek(epmc).pdf DeepDyve Pubget Overpricing