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ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function

Human molecular genetics, 2017-05, Vol.26 (9), p.1656-1669

2017

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ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function

Human molecular genetics, 2017-05, Vol.26 (9), p.1656-1669

2017

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Effects of Leucin-Enkephalins on Surface Characteristics and Morphology of Model Membranes Composed of Raft-Forming Lipids

The Journal of membrane biology, 2016-06, Vol.249 (3), p.229-238

2016

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Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Human molecular genetics, 2013-08, Vol.22 (15), p.2975-2983

2013

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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Neurology, 2010-09, Vol.75 (13), p.1159-1165

2010

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Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature

European journal of paediatric neurology, 2018-07, Vol.22 (4), p.674-681

2018

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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Human molecular genetics, 2012-12, Vol.21 (24), p.5359-5372

2012

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Mutations in SACS cause atypical and late-onset forms of ARSACS

Neurology, 2010-09, Vol.75 (13), p.1181-1188

2010

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Experimental Study of Bed Load Transport through Emergent Vegetation

Journal of hydraulic engineering (New York, N.Y.), 2003-06, Vol.129 (6), p.474-478

2003

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.590-597

2003

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Interactions of Meibomian gland secretion with polar lipids in Langmuir monolayers

Colloids and surfaces, B, Biointerfaces, 2010-07, Vol.78 (2), p.317-327

2010

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Neurology, 2011-08, Vol.77 (6), p.540-548

2011

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Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies

Revue neurologique, 2020-12, Vol.176 (10), p.846-855

2020

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Atypical peripheral manifestation of abnormal sphingolipid metabolism

European journal of paediatric neurology, 2017-06, Vol.21, p.e238-e238

2017

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Flow resistance of emergent vegetation

Journal of hydraulic research, 2004-01, Vol.42 (4), p.390-398

2004

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Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene

Neurology, 2010-07, Vol.75 (1), p.72-76

2010

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Interaction of methionine–enkephalins with raft-forming lipids: monolayers and BAM experiments

Amino acids, 2014-05, Vol.46 (5), p.1159-1168

2014

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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neurology, 2011-12, Vol.77 (24), p.2105-2114

2011

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The Prognostic Role and Relationship between E2F1 and SV40 in Diffuse Large B-Cell Lymphoma of Egyptian Patients

Analytical cellular pathology (Amsterdam), 2015-01, Vol.2015 (2015), p.1-12

2015

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Limitations on the Detection Rate of High-Risk HPV by Hybrid Capture 2 Methodology in High Grade Intraepithelial (HSIL) or Atypical Squamous Cells-Cannot Exclude HSIL (ASC-H) Cytological Lesions with Proved CIN2

Analytical cellular pathology (Amsterdam), 2015-01, Vol.2015 (2015), p.1-4

2015

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Properties of alkyl-phosphatidylcholine monolayers in the presence of surface-active three-block copolymers

Colloids and surfaces, B, Biointerfaces, 2010-10, Vol.80 (1), p.40-44

2010

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Brush Cytology with Immunocytochemical Evaluation of VEGF Expression versus Biopsy in Clinically Precancerous Laryngeal Lesions: Can We Diagnose Laryngeal Cancer Only with Brush Cytology?

Analytical cellular pathology (Amsterdam), 2015-01, Vol.2015 (2015), p.1-7

2015

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

American journal of human genetics, 2015-05, Vol.96 (5), p.808-815

2015

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Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

European journal of paediatric neurology, 2017-06, Vol.21, p.e10-e10

2017

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Interaction of monogalactosyldiacylglycerol with cytochrome b6f complex in surface films

Biochemical and biophysical research communications, 2012-03, Vol.419 (4), p.648-651

2012

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ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function

ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function

Effects of Leucin-Enkephalins on Surface Characteristics and Morphology of Model Membranes Composed of Raft-Forming Lipids

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Mutations in SACS cause atypical and late-onset forms of ARSACS

Experimental Study of Bed Load Transport through Emergent Vegetation

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Interactions of Meibomian gland secretion with polar lipids in Langmuir monolayers

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies

Atypical peripheral manifestation of abnormal sphingolipid metabolism

Flow resistance of emergent vegetation

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene

Interaction of methionine–enkephalins with raft-forming lipids: monolayers and BAM experiments

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

The Prognostic Role and Relationship between E2F1 and SV40 in Diffuse Large B-Cell Lymphoma of Egyptian Patients

Limitations on the Detection Rate of High-Risk HPV by Hybrid Capture 2 Methodology in High Grade Intraepithelial (HSIL) or Atypical Squamous Cells-Cannot Exclude HSIL (ASC-H) Cytological Lesions with Proved CIN2

Properties of alkyl-phosphatidylcholine monolayers in the presence of surface-active three-block copolymers

Brush Cytology with Immunocytochemical Evaluation of VEGF Expression versus Biopsy in Clinically Precancerous Laryngeal Lesions: Can We Diagnose Laryngeal Cancer Only with Brush Cytology?

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

Interaction of monogalactosyldiacylglycerol with cytochrome b6f complex in surface films

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