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Three-tesla magnetic resonance neurography of the brachial plexus in cervical radiculopathy

Muscle & nerve, 2015-09, Vol.52 (3), p.392-396

2015

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Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications

Acta neuropathologica communications, 2024-08, Vol.12 (1), p.136-14

2024

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Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation

Frontiers in neurology, 2023-08, Vol.14, p.1241678-1241678

2023

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Persistent Hiccups and Vomiting with Multiple Cranial Nerve Palsy in a Case of Zoster Sine Herpete

Internal Medicine, 2014, Vol.53(20), pp.2373-2376

2014

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Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan

Journal of human genetics, 2009-07, Vol.54 (7), p.377-381

2009

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Frameshift mutation in the collagen VI gene causes Ullrich's disease

Annals of neurology, 2001-08, Vol.50 (2), p.261-265

2001

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3-2-03. Does cervical radiculopathy complicate brachial plexopathy? An electrophysiological analysis

Clinical neurophysiology, 2017-06, Vol.128 (6), p.e168-e168

2017

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Successful development of novel monoclonal antibodies against HTLV-1 bZIP factor and their applications in studying the pathogenesis of HAM/TSP

Retrovirology, 2011-06, Vol.8 (S1), p.A244-A244, Article A244

2011

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A new type of hereditary motor and sensory neuropathy linked to chromosome 3

Annals of neurology, 1997-06, Vol.41 (6), p.771-780

1997

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The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients

Intractable & Rare Diseases Research, 2018/02/28, Vol.7(1), pp.7-12

2018

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Ultrasound evaluation of tongue and trapezius muscles in advanced cases of hereditary motor and sensory neuropathy with proximal predominance

Shinkei chōonpa igaku, 2015-09, Vol.28 (3), p.139-141

2015

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Clinical manifestations of 5 patients with idiopathic paroxysmal kinesigenic choreoathetosis

Rinsho shinkeigaku = Clinical neurology, 2016, Vol.56 (3), p.165

2016

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Ultrasound evaluation of tongue and trapezius muscles in advanced cases of hereditary motor and sensory neuropathy with proximal predominance

Neurosonology, 2015, Vol.28(3), pp.139-141

2015

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Cardiac involvement in mitochondrial diseases : a study on 17 patients with documented mitochondrial DNA defects

Circulation (New York, N.Y.), 1995-02, Vol.91 (4), p.955-961

1995

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Autopsy case of a patient with Charcot-Marie-Tooth disease type 1A and suspected chronic inflammatory demyelinating polyradiculoneuropathy, which was later diagnosed as amyotrophic lateral sclerosis

Rinsho shinkeigaku = Clinical neurology, 2012, Vol.52 (10), p.750

2012

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Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

Journal of the neurological sciences, 2001-02, Vol.184 (1), p.15-19

2001

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Pathological changes in skeletal muscle in HTLV-I-associated myelopathy

Journal of the neurological sciences, 1992-07, Vol.110 (1), p.73-78

1992

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Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency

Muscle & nerve, 2006-01, Vol.33 (1), p.120-126

2006

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Lambert–Eaton myasthenic syndrome with ophthalmoparesis and pseudoblepharospasm

Muscle & nerve, 1999-12, Vol.22 (12), p.1727-1730

1999

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Collagen VI deficiency in Ullrich's disease

Annals of neurology, 2001-04, Vol.49 (4), p.544-544

2001

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Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

Neurogenetics, 2006-07, Vol.7 (3), p.175-183

2006

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進行期の沖縄型神経原性筋萎縮症における舌および僧帽筋エコーの検討

Neurosonology:神経超音波医学, 2015, Vol.28(3), pp.139-141

2015

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Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma

Acta neuropathologica, 2002-12, Vol.104 (6), p.615-620

2002

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Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease

Muscle & nerve, 2002-11, Vol.26 (5), p.696-701

2002

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Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease

Acta neuropathologica, 2002-07, Vol.104 (1), p.67-71

2002

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Three-tesla magnetic resonance neurography of the brachial plexus in cervical radiculopathy

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation

Persistent Hiccups and Vomiting with Multiple Cranial Nerve Palsy in a Case of Zoster Sine Herpete

Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan

Frameshift mutation in the collagen VI gene causes Ullrich's disease

3-2-03. Does cervical radiculopathy complicate brachial plexopathy? An electrophysiological analysis

Successful development of novel monoclonal antibodies against HTLV-1 bZIP factor and their applications in studying the pathogenesis of HAM/TSP

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients

Ultrasound evaluation of tongue and trapezius muscles in advanced cases of hereditary motor and sensory neuropathy with proximal predominance

Clinical manifestations of 5 patients with idiopathic paroxysmal kinesigenic choreoathetosis

Ultrasound evaluation of tongue and trapezius muscles in advanced cases of hereditary motor and sensory neuropathy with proximal predominance

Cardiac involvement in mitochondrial diseases : a study on 17 patients with documented mitochondrial DNA defects

Autopsy case of a patient with Charcot-Marie-Tooth disease type 1A and suspected chronic inflammatory demyelinating polyradiculoneuropathy, which was later diagnosed as amyotrophic lateral sclerosis

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

Pathological changes in skeletal muscle in HTLV-I-associated myelopathy

Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency

Lambert–Eaton myasthenic syndrome with ophthalmoparesis and pseudoblepharospasm

Collagen VI deficiency in Ullrich's disease

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

進行期の沖縄型神経原性筋萎縮症における舌および僧帽筋エコーの検討

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma

Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease

Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease

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