TDP43 mutation in familial amyotrophic lateral sclerosis

…, A Koyama, H Eguchi, A Tsujino… - Annals of Neurology …, 2008 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Accumulating
evidence has shown that 43kDa TAR‐DNA–binding protein (TDP‐43) is the disease protein …

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

…, K Ichinose, H Nakamura, A Tsujino… - Proceedings of the …, 2011 - National Acad Sciences
Nakajo-Nishimura syndrome (NNS) is a disorder that segregates in an autosomal recessive
fashion. Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint …

TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation

…, A Tagawa, O Onodera, T Iwasaki, A Tsujino… - Acta …, 2007 - Springer
Abstract Recently, 43-kDa TAR DNA-binding protein (TDP-43) was identified as a
component of ubiquitinated inclusions (UIs) in sporadic amyotrophic lateral sclerosis …

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

K Ohno, A Tsujino, JM Brengman… - Proceedings of the …, 2001 - National Acad Sciences
Choline acetyltransferase (ChAT; EC 2.3. 1.6) catalyzes the reversible synthesis of
acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Mutations in …

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

K Ohno, J Brengman, A Tsujino… - Proceedings of the …, 1998 - National Acad Sciences
In skeletal muscle, acetylcholinesterase (AChE) exists in homomeric globular forms of type T
catalytic subunits (ACHET) and heteromeric asymmetric forms composed of 1, 2, or 3 …

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

A Tsujino, C Maertens, K Ohno… - Proceedings of the …, 2003 - National Acad Sciences
In a myasthenic syndrome associated with fatigable generalized weakness and recurrent
attacks of respiratory and bulbar paralysis since birth, nerve stimulation at physiologic rates …

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

…, D Selcen, J Brengman, CM Harper, A Tsujino… - The American Journal of …, 2002 - cell.com
Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-
specific presynaptic, synaptic, and postsynaptic proteins. The postsynaptic CMSs identified …

Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 …

…, M Naito, S Yoshida, Y Fukushige, A Tsujino… - The Lancet …, 2023 - thelancet.com
Background Generalised myasthenia gravis is a chronic, unpredictable, and debilitating
autoimmune disease. New treatments for this disease are needed because conventional …

Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial

…, Y Watanabe, K Nakashima, A Tsujino… - The Lancet …, 2010 - thelancet.com
Background Spinal and bulbar muscular atrophy is a hereditary motor neuron disease
caused by the expansion of a polyglutamine tract in the androgen receptor. At present there …

Thrombolysis with alteplase at 0.6 mg/kg for stroke with unknown time of onset: a randomized controlled trial

…, S Takizawa, Y Okada, R Doijiri, A Tsujino… - Stroke, 2020 - Am Heart Assoc
Background and Purpose—We assessed whether lower-dose alteplase at 0.6 mg/kg is
efficacious and safe for acute fluid-attenuated inversion recovery-negative stroke with …