Search filters

List of works by Naoki Suzuki

A case of McArdle disease: efficacy of vitamin B6 on fatigability and impaired glycogenolysis

scientific article published on 02 August 2010

A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure

scientific article published on 01 November 2011

A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co-occurrence of autism spectrum disorder and tremor

scientific article published on 18 January 2019

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

scientific article published on 23 September 2020

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

scientific article published on 22 November 2018

Aberrant astrocytic expression of chondroitin sulfate proteoglycan receptors in a rat model of amyotrophic lateral sclerosis.

scientific article

Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons

scientific article published on 29 June 2019

Antagonizing bone morphogenetic protein 4 attenuates disease progression in a rat model of amyotrophic lateral sclerosis

scientific article published on 20 June 2018

Associations between Single-Nucleotide Polymorphisms in Corticotropin-Releasing Hormone-Related Genes and Irritable Bowel Syndrome

scientific article published on 16 February 2016

Case of multiple sclerosis with "yes-yes" type head tremor

scientific article published in April 2011

Clinical translation of hepatocyte growth factor for amyotrophic lateral sclerosis

scientific article published in January 2012

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

scientific article published on 10 January 2017

Continuous administration of poloxamer 188 reduces overload-induced muscular atrophy in dysferlin-deficient SJL mice.

scientific article published on 21 October 2011

Corticotropin-Releasing Hormone Receptor 2 Gene Variants in Irritable Bowel Syndrome

scientific article published on 25 January 2016

Corticotropin-releasing hormone receptor 1 gene variants in irritable bowel syndrome

scientific article

Deficient RNA-editing enzyme ADAR2 in an amyotrophic lateral sclerosis patient with a FUS(P525L) mutation.

scientific article published on 21 June 2016

Distal anterior compartment myopathy with early ankle contractures

scientific article published in October 2007

Dorsal-roots enhancement and Wallerian degeneration of dorsal cord in the patient of acute sensory ataxic neuropathy

scientific article published on 28 May 2009

Downstream utrophin enhancer is required for expression of utrophin in skeletal muscle

scientific article published on 01 June 2008

Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells.

scientific article published on 16 March 2016

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

scientific article published on 28 February 2013

Extranodal NK/T-cell Lymphoma Mimicking Granulomatous Myositis

scientific article published on 24 August 2018

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion

scientific article published on 01 October 2015

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

scientific article

FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation

scientific article published in September 2012

Feasibility study for functional test battery of SOD transgenic rat (H46R) and evaluation of edaravone, a free radical scavenger

scientific article published on 26 January 2011

Five-year history of dysphagia as a sole initial symptom in inclusion body myositis

scientific article published on 12 September 2017

GNE myopathy associated with congenital thrombocytopenia: a report of two siblings

scientific article

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing

scientific article published on 10 December 2015

Genetic validation of a therapeutic target in a mouse model of ALS.

scientific article published in August 2014

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.

scientific article published on 28 January 2016

Herpes Labialis in Multiple Sclerosis with a Trigeminal Lesion

scientific article published on 01 February 2011

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

scientific article published on 14 April 2012

Increase in number of sporadic inclusion body myositis (sIBM) in Japan

scientific article published on 29 July 2011

Interstitial pneumonia and other adverse events in riluzole-administered amyotrophic lateral sclerosis patients: a retrospective observational study

scientific article published on 27 April 2019

Intravenous immunoglobulin treatment successfully improved subacute progressive polyradiculoneuropathy with polyclonal gammopathy

scientific article published on 01 December 2009

Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation

scientific article published on 24 September 2015

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

scientific article published on 01 December 2005

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

scientific article

Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation

scientific article published on 23 May 2012

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan

scientific article

NO production results in suspension-induced muscle atrophy through dislocation of neuronal NOS.

scientific article

Neuromyelitis optica preceded by hyperCKemia episode

scientific article published on December 2010

Neuromyelitis optica preceded by hyperCKemia episode.

scientific article published in May 2010

Neuronal NOS is dislocated during muscle atrophy in amyotrophic lateral sclerosis

scientific article published on 01 July 2010

Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy

scientific article published in May 2004

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

scientific article published on 17 February 2011

Pathomechanism and prevalence of sporadic inclusion body myositis (sIBM)

scientific article published on 01 November 2011

Pathomechanisms of anti-cytosolic 5'-nucleotidase 1A autoantibodies in sporadic inclusion body myositis.

scientific article

Procalcitonin might help in discrimination between meningeal neuro-Behçet disease and bacterial meningitis

scientific article published in February 2009

Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation.

scientific article published on 6 August 2016

Proteasome dysfunction induces muscle growth defects and protein aggregation.

scientific article

Rapid screening for Japanese dysferlinopathy by fluorescent primer extension

scientific article published on 15 December 2010

SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation

scientific article published on 13 March 2016

Sporadic Inclusion Body Myositis Manifesting as Isolated Muscle Weakness of the Finger Flexors Three Years after Disease Onset.

scientific article published on December 2016

Sporadic case of non-progressive neurogenic muscular atrophy localized in both calf muscles

scientific article published in January 2013

The Ubiquitin-Proteasome System Is Indispensable for the Maintenance of Muscle Stem Cells.

scientific article published on 8 November 2018

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.

scientific article

The ubiquitin-proteasome system in regulation of the skeletal muscle homeostasis and atrophy: from basic science to disorders

scientific article published on 16 September 2020

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan

scientific article published on 26 June 2019

Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies

scientific article published on September 2012

Up-regulation of insulin-like growth factor-II receptor in reactive astrocytes in the spinal cord of amyotrophic lateral sclerosis transgenic rats

scientific article published in April 2008

[Clinical genetics of amyotrophic lateral sclerosis in Japan: an update]

scientific article published on 01 January 2012

[Development of motor neuron restorative therapy in amyotrophic lateral sclerosis using hepatocyte growth factor]

scientific article published on 01 November 2009

[Regenerative therapies for amyotrophic lateral sclerosis using hepatocyte growth factor]

scientific article published on 01 November 2011

p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case

scientific article published on 24 May 2019

Paulina is supported by:

About Paulina

Help