Marcela Gargiulo

Paris, France

Last Updated: 09/26/2026

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Found 30 publications

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

Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review.

Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review.

Journal: Journal of neuromuscular diseases

Published: March 17, 2026

Lessons learned from 30 years of presymptomatic testing in Huntington Disease.

Lessons learned from 30 years of presymptomatic testing in Huntington Disease.

Journal: Revue neurologique

Published: May 25, 2025

The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients' memories.

The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients' memories.

Journal: Journal of community genetics

Published: January 22, 2025

Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.

Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.

Journal: Frontiers in psychology

Published: January 20, 2025

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.

End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.

Journal: Neurology. Clinical practice

Published: March 23, 2023

Disclosing a diagnosis of a neuromuscular disease in adulthood

Disclosing a diagnosis of a neuromuscular disease in adulthood

Journal: Medecine sciences : M/S

Published: January 17, 2023

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.

Journal: Frontiers in pediatrics

Published: October 19, 2022

Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.

Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.

Journal: Journal of medical genetics

Published: January 26, 2022

Home-based exercise in autoimmune myasthenia gravis: A randomized controlled trial.

Home-based exercise in autoimmune myasthenia gravis: A randomized controlled trial.

Journal: Neuromuscular disorders : NMD

Published: November 16, 2020

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.

Journal: Neurology. Genetics

Published: July 28, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026