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Articles (114)

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1-10 of 114 results for neuromuscular diseases –diagnosis

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Select article: Newborn screening and rapid genomic diagnosis of neuromuscular diseases

Open access

Review article

First published 2025-3

Newborn screening and rapid genomic diagnosis of neuromuscular diseases

Tamara Dangouloff, Helena Lang, Noor Benmhammed [...]

Journal of Neuromuscular Diseases

Select article: Identification of Human Limb Viscoelasticity using Robotics Methods to Support the Diagnosis of Neuromuscular Diseases

Retricted access

Research article

First published 2009-10

Identification of Human Limb Viscoelasticity using Robotics Methods to Support the Diagnosis of Neuromuscular Diseases

Gentiane Venture, Katsu Yamane, Yoshihiko Nakamura [...]

The International Journal of Robotics Research

Select article: Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV

Retricted access

Case report

First published 2018-7

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV

Weiming Yu, Marie-Anne Brundler, James R Wright

Pediatric and Developmental Pathology

Select article: Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease

Open access

Research article

First published 2023

Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease

Oscar Henry Mayer, Reshma Amin, Hemant Sawnani [...]

Journal of Neuromuscular Diseases

Select article: Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

Free access

Review article

First published

Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

Valérie Biancalana, Jocelyn Laporte

Journal of Neuromuscular Diseases

Select article: Book Review: Neuromuscular Diseases: A Practical Approach to Diagnosis and Management

Free access

Book review

First published 1982-2

Book Review: Neuromuscular Diseases: A Practical Approach to Diagnosis and Management

John Walton

Journal of the Royal Society of Medicine

Select article: Making sense of risk diagnosis in case of prenatal and reproductive genetic counselling for neuromuscular diseases

Retricted access

Research article

First published 2014-3

Making sense of risk diagnosis in case of prenatal and reproductive genetic counselling for neuromuscular diseases

Antonella Zaccaro, Maria Francesca Freda

Journal of Health Psychology

Select article: La Risonanza Magnetica muscolare nelle malattie neuromuscolari

Retricted access

Research article

First published 2003-6

La Risonanza Magnetica muscolare nelle malattie neuromuscolari

A. Pichiecchio, C. Cini, M.G. Egitto [...]

The Neuroradiology Journal

Select article: The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide,Pan-NeuromuscularDisease Registry

Open access

Research article

First published 2021

The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide,Pan-NeuromuscularDisease Registry

V. Hodgkinson, J. Lounsberry, S. M’Dahoma [...]

Journal of Neuromuscular Diseases

Select article: The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases

Open access

Review article

First published 2014

The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases

Monkol Lek, Daniel MacArthur

Journal of Neuromuscular Diseases

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