(Q37585735)

21 August 2017

Consensus statement on standard of care for congenital myopathies (English)

1 reference

21 August 2017

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12

1 reference

Anastassios C Koumbourlis

21 August 2017

Leslie A Morrison

27

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Anastassios C Koumbourlis

24

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Anne Connolly

Anne M Connolly

15

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Thomas Sejersen

Thomas Sejersen

5

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Mariz Vainzof

Mariz Vainzof

33

0 references

Heinz Jungbluth

Heinz Jungbluth

23

0 references

Kathryn North

Kathryn North

3

0 references

Nigel G Laing

Nigel G Laing

25

0 references

Craig F. Munns

28

Craig Munns

1 reference

21 August 2017

Ching H Wang

1

1 reference

21 August 2017

James J Dowling

2

1 reference

21 August 2017

Mary K Schroth

4

1 reference

21 August 2017

Frederic Shapiro

6

1 reference

21 August 2017

Jonathan Bellini

7

1 reference

21 August 2017

Hali Weiss

8

1 reference

21 August 2017

Marc Guillet

9

1 reference

21 August 2017

Kimberly Amburgey

10

1 reference

21 August 2017

Susan Apkon

11

1 reference

21 August 2017

Carsten Bonnemann

13

1 reference

21 August 2017

Brigitte Estournet-Mathiaud

16

1 reference

21 August 2017

Dominic Fitzgerald

17

1 reference

21 August 2017

Julaine M Florence

18

1 reference

21 August 2017

Richard Gee

19

1 reference

21 August 2017

Juliana Gurgel-Giannetti

20

1 reference

21 August 2017

Allan M Glanzman

21

1 reference

21 August 2017

Brittany Hofmeister

22

1 reference

21 August 2017

Marion Main

26

1 reference

21 August 2017

Kristy Rose

29

1 reference

21 August 2017

Pamela M Schuler

30

1 reference

21 August 2017

Caroline Sewry

31

1 reference

21 August 2017

Kari Storhaug

32

1 reference

21 August 2017

Nanci Yuan

34

1 reference

21 August 2017

Nigel Clarke

14

1 reference

21 August 2017

1 March 2012

1 reference

Journal of Child Neurology

21 August 2017

1 reference

21 August 2017

27

1 reference

21 August 2017

3

1 reference

21 August 2017

363-382

1 reference

Consensus statement on standard of care for congenital muscular dystrophies

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Pain in youths with neuromuscular disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Core myopathies and risk of malignant hyperthermia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Pathological defects in congenital myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Oral health considerations in muscular dystrophies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Centronuclear (myotubular) myopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

What's new in congenital myopathies?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Mutations in TPM3 are a common cause of congenital fiber type disproportion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Dietary L-tyrosine supplementation in nemaline myopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

23 August 2017

Multi-minicore Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

23 August 2017

Malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Management themes in early onset scoliosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Recent advances in respiratory care for neuromuscular disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Fatigue and neuromuscular diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Central core disease is due to RYR1 mutations in more than 90% of patients.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Sporadic late onset nemaline myopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

X-linked myotubular and centronuclear myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Central core disease: clinical, pathological, and genetic features

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Myalgia as the revealing symptom of multicore disease and fibre type disproportion myopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Mechanisms of actions of inhaled anesthetics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Noninvasive ventilation for chest wall and neuromuscular disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Nemaline and myotubular myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Management of myogenic ptosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Nemaline myopathy: a clinical study of 143 cases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Mechanical insufflation-exsufflation. Comparison of peak expiratory flows with manually assisted and unassisted coughing techniques

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Planning for health care transitions: results from the 2005-2006 National Survey of Children With Special Health Care Needs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

A global perspective on feeding assessment in the neonatal intensive care unit

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Cardiac manifestations of congenital fiber-type disproportion myopathy.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Multicore myopathy with restrictive cardiomyopathy

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

A follow-up study of congenital non-progressive myopathies.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Central core disease. Clinical features in 13 patients.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Multicore myopathy: not always a benign entity.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Dilated cardiomyopathy in multicore myopathy

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Height measurement of patients with neuromuscular disease and contractures

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

X-linked myotubular myopathy with fatal neonatal asphyxia

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Prediction of spirometric values in patients with scoliosis

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Complications of growing-rod treatment for early-onset scoliosis: analysis of one hundred and forty patients.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

RYR1 mutations are a common cause of congenital myopathies with central nuclei

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

The association of malignant hyperthermia and unusual disease: when you're hot you're hot or maybe not.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Genetic variation in RYR1 and malignant hyperthermia phenotypes

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Dementia in a child with myotubular myopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Congenital myasthenic syndromes in childhood: diagnostic and management challenges

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Pregnancy in a patient with nemaline myopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Outcome of noninvasive ventilation in children with neuromuscular disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

[Two cases of nemaline myopathy diagnosed after episodes of respiratory failure].

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Tracheostomy in children with nemaline core myopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Nemaline myopathy and early respiratory failure.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Genotype-phenotype correlations in X-linked myotubular myopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Minicore myopathy in children: a clinical and histopathological study of 19 cases.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Medical complications in long-term survivors with X-linked myotubular myopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Respiratory failure in nemaline myopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Pregnancy and delivery in congenital nemaline myopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Orthopaedic aspects of central core disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5234865

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

1 September 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812436605

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812436605

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812436605

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812436605

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812436605

Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies

21 January 2018

1 reference

12 December 2020

Dentofacial characteristics of growing patients with Duchenne muscular dystrophy: a morphological study

1 reference

12 December 2020

Swallowing function and medical diagnoses in infants suspected of Dysphagia

1 reference

12 December 2020

Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy

1 reference

12 December 2020

Orofacial dysfunction in children and adolescents with myotonic dystrophy

1 reference

12 December 2020

Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation

1 reference

12 December 2020

Swallowing problems in neuromuscular disorders

1 reference

12 December 2020

Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy

1 reference

12 December 2020

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia

1 reference

12 December 2020

Molded plexidur corrective corsets in the treatment of paralytic scolioses. Evaluation after 7 years usage

1 reference

12 December 2020

Bite force and maxillofacial morphology in patients with Duchenne-type muscular dystrophy

1 reference

12 December 2020

[Effect of thoracic bracing on lung function in children with neuromuscular disease]

1 reference

12 December 2020

Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant

1 reference

12 December 2020

Gastroesophageal reflux associated with nemaline myopathy of infancy

1 reference

12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

12 December 2020

Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications

1 reference

12 December 2020

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

1 reference

12 December 2020

[Care continuity for patients with myopathy during transition of childhood to adulthood]

1 reference

12 December 2020

Oral health in children and adolescents with myotonic dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy--a dental healthcare program

1 reference

12 December 2020

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

1 reference

12 December 2020

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

1 reference

12 December 2020

Nemaline myopathy: description of an adult onset case

1 reference

12 December 2020

Identifiers

DOI

10.1177/0883073812436605

1 reference

release_ofjnpdlzbnhzjkdsm3toartecq

21 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ofjnpdlzbnhzjkdsm3toartecq

24 November 2022

mapped directly with Wikidata item

1 reference

21 August 2017

PubMed publication ID

22431881

1 reference