Respiratory involvement in inherited primary muscle conditions (Q36596271)

15 August 2017

1 reference

title

Respiratory involvement in inherited primary muscle conditions (English)

1 reference

15 August 2017

Shahrizaila N

1

1 reference

15 August 2017

Kinnear WJ

series ordinal

2

1 reference

15 August 2017

Wills AJ

series ordinal

3

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 October 2006

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

15 August 2017

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15 August 2017

77

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15 August 2017

10

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15 August 2017

1108-1115

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Respiratory muscle evaluation of the patient with neuromuscular disease

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Ventilatory support in facioscapulohumeral muscular dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

The diagnosis of mitochondrial muscle disease.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Limitations of sniff nasal pressure in patients with severe neuromuscular weakness

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Formal genetics of muscular dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Domiciliary-assisted ventilation in patients with myotonic dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Pulmonary function testing in neuromuscular disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Effect of manually assisted cough and mechanical insufflation on cough flow of normal subjects, patients with chronic obstructive pulmonary disease (COPD), and patients with respiratory muscle weakness

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Metabolic myopathies: a clinical approach; part I.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Mitochondrial DNA and disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Neonatal metabolic myopathies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Linkage of proximal myotonic myopathy to chromosome 3q.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Daytime sleep in myotonic dystrophy is not caused by sleep apnoea

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Unusual type of benign x-linked muscular dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

9 September 2017

Emery-Dreifuss syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Diagnostic criteria for Walker-Warburg syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Genetic counselling in facioscapulohumeral muscular dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Melas: an original case and clinical criteria for diagnosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Inspiratory muscle training in the patient with neuromuscular disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Anaesthetic problems in myotonic dystrophy. A case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Fatal infantile form of muscle phosphorylase deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Anesthetic and surgical complications in 219 cases of myotonic dystrophy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Relationship between chronic hypercapnia and inspiratory-muscle weakness in myotonic dystrophy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Central and peripheral respiratory electrophysiological studies in myotonic dystrophy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Measurement of respiratory muscle strength

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Adult onset of nemaline myopathy presenting as respiratory insufficiency.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Muscle-eye-brain disease (MEB)

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Decline in respiratory function and experience with long-term assisted ventilation in advanced Duchenne's muscular dystrophy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Respiratory failure revealing mitochondrial myopathy in adults

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Report on the 12th ENMC sponsored international workshop--the "limb-girdle" muscular dystrophies

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Obstructive sleep apnea syndrome complicating oculopharyngeal muscular dystrophy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

The phenotype of limb-girdle muscular dystrophy type 2I

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Postoperative use of a cough-assist device in avoiding prolonged intubation.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

ATS/ERS Statement on respiratory muscle testing.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Peak flow and peak cough flow in the evaluation of expiratory muscle weakness and bulbar impairment in patients with neuromuscular disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Respiratory muscle training in neuromuscular disease: long-term effects on strength and load perception.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Excessive daytime sleepiness in myotonic dystrophy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Daytime somnolence in myotonic dystrophy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Respiratory failure in nemaline myopathy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Inspiratory muscle training in patients with Duchenne muscular dystrophy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Myotonic dystrophy with alveolar hypoventilation and hypersomnia: a clinicopathological study.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Abnormalities in swallowing associated with dystrophia myotonica.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Two cases of mitochondrial myopathy with predominant respiratory dysfunction

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077539

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

4 December 2018

1 reference

12 December 2020

Criteria for extubation and tracheostomy tube removal for patients with ventilatory failure. A different approach to weaning

1 reference

12 December 2020

Randomised trial of preventive nasal ventilation in Duchenne muscular dystrophy

1 reference

12 December 2020

X-linked myotubular myopathy--a long-term follow-up study

1 reference

12 December 2020

Muscle-eye-brain disease

1 reference

12 December 2020

2 Years' experience with inspiratory muscle training in patients with neuromuscular disorders

1 reference

12 December 2020

Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene

1 reference

12 December 2020

Unexplained exertional limitation: characterization of patients with a mitochondrial myopathy

1 reference

12 December 2020

Diaphragm function and alveolar hypoventilation

1 reference

12 December 2020

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

12 December 2020

Limb girdle muscular dystrophy type 2A presenting with cardiac arrest

1 reference

12 December 2020

Nasal intermittent positive pressure ventilation. Long-term follow-up in patients with severe chronic respiratory insufficiency

1 reference

12 December 2020

A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy

1 reference

12 December 2020

Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

1 reference

12 December 2020

Ventilatory response in myotonic dystrophy

1 reference

12 December 2020

Oculopharyngeal muscular dystrophy complicating airway management

1 reference

12 December 2020

Respiratory muscle involvement in Bethlem myopathy

1 reference

12 December 2020

Evaluation of pulmonary function in neuromuscular disease

1 reference

12 December 2020

Fifty year follow-up of a patient with central core disease shows slow but definite progression

1 reference

12 December 2020

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

1 reference

12 December 2020

A 10-year study of mortality in a cohort of patients with myotonic dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Pulmonary mechanics in patients with respiratory muscle weakness

1 reference

12 December 2020

Clinical implications of maximal respiratory pressure determinations for individuals with Duchenne muscular dystrophy

1 reference

12 December 2020

Sniff nasal inspiratory pressure as a marker of respiratory function in motor neuron disease

1 reference

12 December 2020

Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids

1 reference

12 December 2020

Usefulness of sniff nasal pressure in patients with neuromuscular or skeletal disorders

1 reference

12 December 2020

Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation--a consensus conference report

1 reference

12 December 2020

Pulmonary function and electromyographic study of respiratory muscles in myotonic dystrophy

1 reference

12 December 2020

Decompensated cor pulmonaleas the first manifestation of adult-onset myopathy

1 reference

12 December 2020

Overview of distal myopathies: from the clinical to the molecular

1 reference

12 December 2020

Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship

1 reference

12 December 2020

Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

1 reference

12 December 2020

Pathogenesis of respiratory insufficiency in myotonic dystrophy: the mechanical factors

1 reference

12 December 2020

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

1 reference

12 December 2020

Fatal infantile muscle phosphorylase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2005.078881

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

16980655

1 reference