Szymon Ziętkiewicz
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View article: <scp>CLPB</scp> Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation
<span>CLPB</span> Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation Open
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View article: Molekularny system kontroli jakości, czyli jak białka wychodzą na prostą (zwiniętą)?
Molekularny system kontroli jakości, czyli jak białka wychodzą na prostą (zwiniętą)? Open
View article: Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy Open
View article: Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant
Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant Open
The SH3 and multiple ankyrin repeat domains (SHANKs) are a family of scaffolding proteins located in excitatory synapses required for their development and function. Molecular defects of SHANK3 are a well-known cause of several neurodevelo…
View article: Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency Open
View article: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency Open
View article: CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease
CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease Open
View article: Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia Open
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing…
View article: Hsp70 displaces small heat shock proteins from aggregates to initiate protein refolding
Hsp70 displaces small heat shock proteins from aggregates to initiate protein refolding Open
View article: CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder Open