Neuromuscular Disorders

Journal: Neuromuscular Disorders

Abbreviation

Neuromuscul Disord

Publisher

Elsevier

ISSN

0960-8966
1873-2364

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Publications 1 - 7 of 7

Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates
Müller, J.; Senderek, J.; Dusl, M.; et al. (2011)
Neuromuscular Disorders
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
Gosselin, Isabelle; Thiffault, Isabelle; Tetreault, Martine; et al. (2008)
Neuromuscular Disorders
A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3
Senderek, J.; Garvey, S.M.; Krieger, M.; et al. (2009)
Neuromuscular Disorders
Myelin and axons: Lessons learned from inherited peripheral neuropathies
Suter, Ueli (2006)
Neuromuscular Disorders
Limb Girdle Congenital Myasthenia Syndrome associated with mutations in GFPT1 gene. Report of two patients
Colomer, J.; Nascimento, A.; Ortez, C.; et al. (2011)
Neuromuscular Disorders
Aseptic meningoencephalitis during nusinersen therapy in a patient with type III spinal muscular atrophy: a case report
Kolakowski, Lukasz; Zschau, Olivia; Bonzon, Jérôme; et al. (2025)
Neuromuscular Disorders
Nusinersen, an intrathecally-administered antisense oligonucleotide for the treatment of spinal muscular atrophy (SMA), may rarely cause mild aseptic meningitis early in treatment. We report a severe late-onset aseptic brain stem meningoencephalitis in a 42-year-old man with type III SMA, occurring 38 months after starting nusinersen. The patient showed clinical and radiological signs of brain stem meningoencephalitis with significant CSF neutrophilic pleocytosis, despite negative infectious disease tests. After high-dose steroids and tapering, symptoms and imaging findings resolved. This case suggests a potential link between nusinersen and aseptic meningoencephalitis in adult SMA, extending previous reports of rare drug-induced aseptic meningitis. Physicians should consider this as a possible adverse event in patients undergoing intrathecal nusinersen therapy.
The effect of respiratory muscle endurance training in patients with myasthenia gravis
Rassler, Beate; Hallebach, Guido; Kalischewski, Petra; et al. (2007)
Neuromuscular Disorders

Publications 1 - 7 of 7

Journal: Neuromuscular Disorders

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