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Publications by Sławomir Filipek

A Patient With Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene

PLoS ONE
Multidisciplinary
2013English

G Protein-Coupled Receptors--Recent Advances.

Acta Biochimica Polonica
BiochemistryGeneticsMolecular Biology
2012English

Related publications

Posterior Cortical Atrophy

2020English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine
Alternative MedicineComplementary
2012English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine
BiochemistryMedicineGeneticsMolecular Biology
2000English

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice
Neurology
2018English

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2019English

Facilitating Text Reading in Posterior Cortical Atrophy

Neurology
Neurology
2015English

Upside-Down Drawing in Posterior Cortical Atrophy

Canadian Journal of Neurological Sciences
MedicineNeurology
2014English

A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy

Frontiers in Pediatrics
Child HealthPediatricsPerinatology
2019English

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics
Genetics
2000English

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