Tanya Stojkovic

Centre De Référence Maladies Neuromusculaires Paris Est
Paris, France

Last Updated: 09/26/2026

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Found 272 publications

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Journal: Journal of neuromuscular diseases

Published: July 28, 2026

A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France.

A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France.

Journal: Journal of neuromuscular diseases

Published: April 24, 2026

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Journal: Journal of neurology

Published: March 10, 2026

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Journal: Journal of neuromuscular diseases

Published: February 25, 2026

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Journal: Neuromuscular disorders : NMD

Published: February 20, 2026

Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.

Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.

Journal: European journal of neurology

Published: January 29, 2026

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Journal: Human mutation

Published: January 25, 2026

Determinants of diaphragm ultrasound and its diagnostic performance for predicting respiratory status in myotonic dystrophy type 1.

Determinants of diaphragm ultrasound and its diagnostic performance for predicting respiratory status in myotonic dystrophy type 1.

Journal: Respiratory medicine and research

Published: January 17, 2026

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.

Journal: Journal of the peripheral nervous system : JPNS

Published: January 15, 2026

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.

Journal: Neurology. Genetics

Published: December 16, 2025

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.

Journal: Orphanet journal of rare diseases

Published: December 16, 2025

Overlap of neuropathy and myopathy genes: convergence of two entities

Overlap of neuropathy and myopathy genes: convergence of two entities

Journal: Medecine sciences : M/S

Published: November 28, 2025

Showing 1-12 of 272

Last Updated: 09/26/2026