4.5 Article

Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia

Richard G. Webster et al.

HUMAN MOLECULAR GENETICS (2020)

Review Genetics & Heredity

Congenital myasthenic syndromes

Josef Finsterer

ORPHANET JOURNAL OF RARE DISEASES (2019)

Review Clinical Neurology

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Lorenzo Maggi et al.

NEUROLOGICAL SCIENCES (2019)

Review Multidisciplinary Sciences

Therapeutic strategies for congenital myasthenic syndromes

Manon Lee et al.

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES (2018)

Review Clinical Neurology

Congenital Myasthenic Syndromes in 2018

Andrew G. Engel

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2018)

Review Biochemistry & Molecular Biology

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

Pedro M. Rodriguez Cruz et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)

Review Clinical Neurology

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Andrew G. Engel et al.

LANCET NEUROLOGY (2015)

Article Pediatrics

How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia

Jeremy Ross Parr et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2014)

Review Clinical Neurology

Congenital myasthenic syndromes and the neuromuscular junction

Pedro M. Rodriguez Cruz et al.

CURRENT OPINION IN NEUROLOGY (2014)

Article Clinical Neurology

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

RF Byring et al.

NEUROMUSCULAR DISORDERS (2002)

Article Genetics & Heredity

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

K Ohno et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)