User profiles for Shahriar Nafissi
Nafissi, ShahriarProfessor of Neurology, Neuromuscular Research Center, Tehran University of medical … Verified email at sina.tums.ac.ir Cited by 3464 |
[PDF][PDF] KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2
…, B Brais, GA Nicholson, H Van Esch, S Nafissi… - The American Journal of …, 2011 - cell.com
Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-recessive
disorder characterized by peripheral nerve degeneration resulting in a severe distal …
disorder characterized by peripheral nerve degeneration resulting in a severe distal …
[PDF][PDF] Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
…, CJ Mallebrera, A Nascimento, S Nafissi… - The American Journal of …, 2011 - cell.com
Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to
skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of …
skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of …
[HTML][HTML] COVID-19-associated risks and effects in myasthenia gravis (CARE-MG)
…, RV Do Campo, S Saba, S Nafissi… - The Lancet …, 2020 - thelancet.com
During the COVID-19 pandemic, patients with neuromuscular disorders, especially patients
with autoimmune myasthenia gravis, might be at greater risk of worse outcomes than other …
with autoimmune myasthenia gravis, might be at greater risk of worse outcomes than other …
Mutation in ADORA1 identified as likely cause of early‐onset parkinsonism and cognitive dysfunction
Background We aimed to identify the genetic cause of neurological disease in an Iranian
family whose manifestations include symptoms of parkinsonism and cognitive dysfunction. …
family whose manifestations include symptoms of parkinsonism and cognitive dysfunction. …
[HTML][HTML] Recommendations for infantile-onset and late-onset Pompe disease: an Iranian consensus
…, P Sarraf, K Sayadpour Zanjani, S Nafissi - Frontiers in …, 2021 - frontiersin.org
Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency
or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage …
or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage …
[HTML][HTML] Safety and efficacy of nanocurcumin as add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a pilot randomized clinical trial
The objective of present study was to assess the safety and efficacy of nanocurcumin as an
anti-inflammatory and antioxidant agent in adults with amyotrophic lateral sclerosis (ALS). …
anti-inflammatory and antioxidant agent in adults with amyotrophic lateral sclerosis (ALS). …
International clinimetric evaluation of the MG‐QOL15, resulting in slight revision and subsequent validation of the MG‐QOL15r
…, S Birnbaum, JY Hogrel, S Nafissi… - Muscle & …, 2016 - Wiley Online Library
Introduction: The MG‐QOL15 is a validated, health‐related quality of life (HRQOL) measure
for myasthenia gravis (MG). Widespread use of the scale gave us the opportunity to further …
for myasthenia gravis (MG). Widespread use of the scale gave us the opportunity to further …
Effect of vitamin A supplementation on fatigue and depression in multiple sclerosis patients: a double-blind placebo-controlled clinical trial
Decreasing the population and activation of inflammatory T helper cells in multiple sclerosis
(MS) patients using vitamin A derivatives (retinoic acids) has been well documented. The …
(MS) patients using vitamin A derivatives (retinoic acids) has been well documented. The …
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
…, JJ Vilchez, N Muelas, J Kirschner, S Nafissi… - Journal of …, 2012 - Springer
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group
of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of …
of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of …
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients
Objectives: Several lines of evidence suggest that mitochondrial dysfunction is involved in
amyotrophic lateral sclerosis (ALS), but despite the fact that mitochondria play a central role in …
amyotrophic lateral sclerosis (ALS), but despite the fact that mitochondria play a central role in …