Results 41 to 50 of about 777,243 (151)

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, Volume 74, Issue S1, Page S31-S40, September 2026.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Etiology and clinical profile of childhood optic nerve atrophy at a tertiary eye care center in South India

Indian Journal of Ophthalmology, 2014
Background: Optic nerve atrophy is an important ophthalmological sign that may be associated with serious systemic conditions having a significant bearing on the overall morbidity of the child.
Supriya Chinta, Batriti S Wallang, Virender Sachdeva, Amit Gupta, Preeti Patil-Chhablani, Ramesh Kekunnaya   +5 more
doaj   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, Volume 74, Issue S1, Page S52-S57, September 2026.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

The diagnostic yield of neuroimaging in sixth nerve palsy - Sankara Nethralaya Abducens Palsy Study (SNAPS): Report 1

Indian Journal of Ophthalmology, 2014
Aims: The aim was to assess the etiology of sixth nerve palsy and on the basis of our data, to formulate a diagnostic algorithm for the management in sixth nerve palsy. Design: Retrospective chart review. Results: Of the 104 neurologically isolated cases,
Akshay Gopinathan Nair, Selvakumar Ambika, Veena Olma Noronha, Rashmin Anilkumar Gandhi   +3 more
doaj   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, Volume 74, Issue S1, Page S65-S75, September 2026.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Delaware Early Childhood Council 2011 Annual Report

, 2012
2011 Annual Report of the Delaware Early Childhood ...
Delaware Early Childhood Council
core   +2 more sources

Neuro-ophthalmology as a career

Indian Journal of Ophthalmology, 2014
This essay was written to discuss the reasoning behind the personal decisions made by 2 current neuro-ophthalmology fellows to pursue neuro-ophthalmology as a career.
Arielle Spitze, Nagham Al-Zubidi, Peter Lam, Sushma Yalamanchili, Andrew G Lee   +4 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Myasthenic Crisis in a Child: Successful Recovery after Early Identification and Intervention

Indian Pediatrics Case Reports
Background: Juvenile myasthenia gravis (MG) is a rare autoimmune neuromuscular disorder and has a varied presentation in childhood making it a diagnostic challenge.
Ishmeet Kaur Jaggi, Pooja Dewan, Deepika Harit, Jaya Shankar Kaushik, Mukesh Yadav   +4 more
doaj   +1 more source

Controversies: Optic nerve sheath fenestration versus shunt placement for the treatment of idiopathic intracranial hypertension

Indian Journal of Ophthalmology, 2014
Background: Idiopathic intracranial hypertension (IIH) has been increasing in prevalence in the past decade, following the obesity epidemic. When medical treatment fails, surgical treatment options must be considered.
Arielle Spitze, Peter Lam, Nagham Al-Zubidi, Sushma Yalamanchili, Andrew G Lee   +4 more
doaj   +1 more source