Anna Chromik-Potulska

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 44 publications

Neuromuscular Symptoms of ORAI1-Related Immunodeficiency.

Neuromuscular Symptoms of ORAI1-Related Immunodeficiency.

Journal: Journal of child neurology
Published: July 02, 2026

King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant Hyperthermia.

King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant Hyperthermia.

Journal: Journal of mother and child
Published: March 17, 2026

SIGMAR1 gene-related neuromuscular disorders - what do we know?

SIGMAR1 gene-related neuromuscular disorders - what do we know?

Journal: Neurologia i neurochirurgia polska
Published: May 17, 2025

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Journal: Brain : a journal of neurology
Published: January 27, 2025

Real-time measurement of radiation exposure in interventional radiologists during CT-guided intrathecal injections of nusinersen.

Real-time measurement of radiation exposure in interventional radiologists during CT-guided intrathecal injections of nusinersen.

Journal: Neuroradiology
Published: May 19, 2024

Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

Journal: Journal of applied genetics
Published: April 28, 2024

Enteric neuropathy - when a surgeon is not immediately needed.

Enteric neuropathy - when a surgeon is not immediately needed.

Journal: Folia neuropathologica
Published: January 01, 2024

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.

Journal: Postepy psychiatrii neurologii
Published: November 06, 2023

Dysregulated iron homeostasis in dystrophin-deficient cardiomyocytes: correction by gene editing and pharmacological treatment.

Dysregulated iron homeostasis in dystrophin-deficient cardiomyocytes: correction by gene editing and pharmacological treatment.

Journal: Cardiovascular research
Published: March 22, 2023

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.

Journal: Orphanet journal of rare diseases
Published: December 30, 2022

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Journal: International journal of molecular sciences
Published: April 23, 2022

Corrigendum: Pediatric CIDP: Diagnosis and Management. A Single-Center Experience.

Corrigendum: Pediatric CIDP: Diagnosis and Management. A Single-Center Experience.

Journal: Frontiers in neurology
Published: September 27, 2021
Showing 1-12 of 44

Last Updated: 09/26/2026