Search filters

List of works by Ichizo Nishino

2 Month-Old Male with Hypotonia

scientific article

201st ENMC International Workshop: Autophagy in muscular dystrophies--translational approach, 1-3 November 2013, Bussum, The Netherlands

scientific article

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands

scientific article published on 10 December 2014

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease

scientific article published in June 2010

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

scientific article published on 18 August 2007

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

scientific article published on 12 December 2006

A JAPANESE ADULT FORM OF CPT II DEFICIENCY ASSOCIATED WITH A HOMOZYGOUS F383Y MUTATION

scientific article published on 01 August 2007

A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit

scientific article published on 20 March 2006

A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles.

scientific article

A case of congenital neuromuscular disease with uniform type 1 fibers.

scientific article published on 18 January 2006

A case of inclusion body myopathy with Paget^|^apos;s disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease

scientific article published on 01 January 2013

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis

scientific article

A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

scientific article published on 16 July 2015

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

scientific article published on 7 August 2014

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

scientific article

A nationwide survey on Marinesco-Sjögren syndrome in Japan

scientific article

A new congenital form of X-linked autophagic vacuolar myopathy.

scientific article

A new familial distal myopathy in Japan with predominant upper extremities

scientific article published on 07 April 2018

A new form of muscular dystrophy with mitochondrial structural abnormalities

scientific article published on 01 December 2001

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

scientific article published on 20 October 2006

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

scientific article published on 20 July 2018

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

scientific article published on 19 September 2008

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

scientific article published on 11 January 2012

A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy

scientific article published in August 1996

A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.

scientific article

A pediatric patient with myopathy associated with antibodies to a signal recognition particle

scientific article published on 19 March 2012

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

scientific article

A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency

scientific article published in February 2014

A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene

article

ABC in muscle pathology

scientific article published on 01 September 2011

ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.

scientific article

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features

scientific article published on 09 July 2020

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies

scientific article published on 10 March 2006

Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles

article

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

scientific article published on 21 December 2011

Actin mutations are one cause of congenital fibre type disproportion

scientific article published in November 2004

Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations

article

Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca(2+) and AMPK/SIRT1.

scientific article published on 31 March 2010

Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase

scientific article published on 09 September 2011

Affixin activates Rac1 via betaPIX in C2C12 myoblast

scientific article

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

scientific article

Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy

scientific article published on May 2005

Altered thymidine metabolism due to defects of thymidine phosphorylase

scientific article (publication date: 8 February 2002)

Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.

scientific article

Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1

scientific article (publication date: September 2011)

An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene

scientific article published in January 2013

An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles

scientific article published on 5 May 2016

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2

scientific journal article

Anti-HMGCR myopathy following acute Epstein-Barr virus infection

scientific article published on 22 October 2019

Anti-signal recognition particle myopathy in the first decade of life

scientific article published on August 2011

Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility

scientific article

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

scientific article published on 19 April 2005

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

scientific article

Autophagic vacuolar myopathy.

scientific article published on June 2006

Autophagy in lysosomal myopathies

scientific article published on January 2012

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

scientific article

Beevor's sign: a potential clinical marker for GNE myopathy.

scientific article published in August 2016

Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review

scientific article published on 30 November 2020

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

scientific journal article

Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases

scientific article published on 22 December 2009

Brain perfusion abnormalities in a thinner and amphetamine abuser detected by I-123 IMP scintigraphy

scientific article published in November 1992

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

scientific article published on 25 November 2020

COVID-19-associated myositis may be dermatomyositis

scientific article published on 23 October 2020

CXorf6 is a causative gene for hypospadias

scientific article published on 5 November 2006

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy

scientific article published on 19 October 2016

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A

scientific article

Case of amyloidosis with amyloid deposition detected only in skeletal muscles

scientific article published in January 2012

Cell stress molecules in the skeletal muscle of GNE myopathy ⬇️

scientific article published on March 12, 2013

Cell-Surface Protein Profiling Identifies Distinctive Markers of Progenitor Cells in Human Skeletal Muscle

scientific article published on August 2016

Central core disease is due to RYR1 mutations in more than 90% of patients.

scientific article

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

scientific article published on 26 September 2009

Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2

scientific journal article

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

scientific article published on 19 April 2013

Characterization of Danon disease in a male patient and his affected mother

scientific article published on 01 November 2003

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism

scientific article

Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.

scientific article published on 05 January 2007

Characterization of the Asian myopathy patients with VCP mutations

scientific article published on 31 October 2011

Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy

scientific article

Chronic sarcoid myopathy mimicking sporadic inclusion body myositis

scientific article published on 06 May 2019

Clinical and genetic analysis of lipid storage myopathies

scientific article published in March 2009

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.

scientific article published on 16 January 2014

Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies.

scientific article published on 17 July 2014

Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy

scientific article published on 4 May 2016

Clinical utility gene card for: Centronuclear and myotubular myopathies

scientific article

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.

scientific article

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

scientific article published on 19 May 2012

Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1

scientific article published on 09 December 2020

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

scientific article published on 31 August 2017

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

scientific article published on 27 March 2015

Congenital fiber type disproportion myopathy caused by LMNA mutations

scientific article published on 05 March 2014

Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood

scientific article published on 13 March 2013

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

scientific article

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

scientific article published in May 2005

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

scientific article published on 24 February 2010

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

scientific article published on 30 May 2007

Corrigendum to “Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations”

scholarly article published in Neuromuscular Disorders

Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells.

scientific article published on 12 November 2007

Cys669-Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association

scientific article published in January 2007

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan

scientific article published on 12 December 2014

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

scientific article

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst

scientific article published on 14 June 2016

Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients

scientific article

Danon disease: A novel Lamp-2 gene mutation in a family with four affected members

article

Danon disease: a phenotypic expression of LAMP-2 deficiency

scientific article

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

article published in 2014

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient

scientific article (publication date: June 2009)

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

scientific article published on 07 October 2010

Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease ⬇️

scientific article published on April 30, 2013

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA ⬇️

scientific article published on December 1, 2001

Deficiency of alpha-dystroglycan in muscle-eye-brain disease

scientific article published in March 2002

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

scientific article published on 18 November 2003

Detection of DNA Fragments Encompassing the Deletion Junction of Mitochondrial Genome

scientific article published on 01 May 1996

Development of therapy for distal myopathy with rimmed vacuoles

scientific article published in November 2009

Dietary Phosphorus Overload Aggravates the Phenotype of the Dystrophin-Deficient mdx Mouse

scientific article published on 28 August 2014

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders

scientific article published on 21 January 2009

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

scientific article published on 01 September 2008

Distal lipid storage myopathy due to PNPLA2 mutation

scientific article published on 26 July 2008

Distal myopathy in multi-minicore disease

scientific article published in October 2009

Distal myopathy with rimmed vacuoles in a case of opercular syndrome

scientific article published on 28 February 2006

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

scientific article

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels

scientific article published on 16 September 2014

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants

scientific article published on 20 April 2020

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

scientific article published in October 2004

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.

scientific article published on 29 October 2015

Dysferlinopathy associated with rigid spine syndrome

scientific article published on 01 December 2004

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

scientific article (publication date: March 2009)

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

scientific article published on 5 May 2016

Effects of enzyme replacement therapy on five patients with advanced late‐onset glycogen storage disease type II: a 2‐year follow‐up study ⬇️

scientific article published on October 7, 2011

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.

scientific article published on 11 July 2013

Elucidation of the pathomechanism for autophagic vacuolar myopathy and development of a therapy

scientific article published on November 2010

Eponym: Barth syndrome

scientific article published on 23 September 2011

Erratum: Corrigendum: Cxorf6 is a causative gene for hypospadias

article

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

scientific article published on 16 May 2013

Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle

scientific article published on 01 July 2003

Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy

scientific article published on 28 February 2007

Expression of Myoferlin in Skeletal Muscles of Patients with Dysferlinopathy

scientific article published on 01 June 2006

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

scientific article

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.

scientific article published on 21 April 2011

FSHD-like patients without 4q35 deletion

scientific article published in April 2004

Familial reducing body myopathy.

scientific article published on 21 August 2006

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report

scientific article published on 04 September 2013

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

scientific article

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.

scientific article published on 14 October 2011

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

scientific article

Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle

article

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.

scientific article

GNE myopathy in Chinese population: hotspot and novel mutations

article

GNE myopathy in India

scientific article published in July 2013

GNE myopathy: a prospective natural history study of disease progression

scientific article published on 28 February 2014

GNE myopathy: current update and future therapy.

scientific article

GNE myopathy: new name and new mutation nomenclature

scientific article

Gene expression analyses in X-linked myotubular myopathy

article

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

scientific article published on 25 February 2016

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

scientific article published on 15 April 2008

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

Granuloma formation in a patient with GNE myopathy: A case report

scientific article published on 18 November 2016

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

scientific article

HLA-DRB1 alleles in immune-mediated necrotizing myopathy: Table 1

scientific article published on 31 August 2016

Hepatitis C virus infection in inclusion body myositis: A case-control study

scientific article published on 18 December 2015

Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances

article

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

High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation

scientific article published in February 2012

Homozygous female Becker muscular dystrophy

scientific article published on 01 May 2009

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

scientific article published on 28 May 2020

Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia

scientific article

Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event

scientific article published on 29 April 2014

Identification and characterization of PDGFRα+ mesenchymal progenitors in human skeletal muscle.

scientific article published on 17 April 2014

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

scientific article published on 19 March 2015

In Vivo Characterization of Mutant Myotilins

scientific article published on 18 February 2012

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

scientific article published on 29 July 2011

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

scientific article

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.

scientific article published on 21 February 2013

Inflammatory changes in infantile-onset LMNA-associated myopathy

Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.

scientific article published on 13 May 2015

Intranuclear rods myopathy with autonomic dysfunction

scientific article published on 25 October 2012

Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped head

scientific article published on 20 September 2009

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation

scientific article published on 10 June 2016

Juvenile autophagic vacuolar myopathy - a new entity or variant?

scientific article published in June 2013

Kyphoscoliosis and easy fatigability in a 14-year-old boy

scientific article published on 28 August 2014

LAMP-2 Positive Vacuolar Myopathy with Dilated Cardiomyopathy

scientific article published on 01 June 2007

LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens

scientific article

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

scientific article published on 6 June 2004

Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy

scientific article published on 26 January 2011

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Light-chain amyloid myopathy isolated to skeletal muscles: A case report

scientific article published on 08 September 2020

Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations

article

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

scientific article published on 22 June 2013

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.

scientific article published on 7 March 2013

Lipid storage myopathy

scientific article published on February 2011

Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness

scientific article published on 26 April 2011

Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle

scientific article published on 01 May 2003

Lysosomal myopathies

scientific article published on 01 January 2007

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

scientific article published on 27 May 2008

Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease

scientific article published on 23 December 2012

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene

scientific article published on 10 April 2013

MNGIE: from nuclear DNA to mitochondrial DNA.

scientific article

Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation

scientific article

Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

scientific article published on 27 September 2007

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

scientific article published on October 2013

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

scientific article published on 29 May 2011

Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy

scientific article published on 3 March 2008

Mitochondrial encephalomyopathy with 15915 mutation: clinical report

scientific article published in September 1997

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

scientific article published in November 2002

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

scientific article

Monitoring autophagy in muscle diseases

scientific article published on January 2009

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan

scientific article

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

scientific article

Muscle from a 20-week-old myotubular myopathy fetus is not myotubular

scientific article

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.

scientific article published on 29 September 2011

Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM

article

Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction

scientific article published on 24 September 2014

Muscular dystrophies

scientific article published on 01 October 2002

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype

scientific article

Mutation analysis of theGNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

article

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

scientific article published on 11 September 2013

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

scientific article published on May 2016

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan

scientific article published in December 1999

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report

scientific article published on 18 November 2014

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families

scientific article published in March 1997

Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest

scientific article published on 01 April 2011

Myotonic dystrophy type 2 is rare in the Japanese population

scientific article published on 19 January 2012

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

scientific article

NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY

scientific article published on 01 January 2009

Nationwide patient registry for GNE myopathy in Japan

scientific article

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure

scientific article published on 24 September 2014

Negative result in search for human alpha-dystrobrevin deficiency

scientific article published on 01 September 2003

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

scientific article published on 23 June 2009

Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state

scientific article

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

scientific article published on 22 July 2019

Novel DYSF mutations in Thai patients with distal myopathy.

scientific article published on 2 June 2009

Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy

scientific article published on 05 December 2008

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease

scientific article published in March 2006

Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.

scientific article

Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence

scientific article published on 15 December 2011

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.

scientific article

Oculopharyngeal muscular dystrophy associated with dementia

scientific article published on 15 October 2011

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman

scientific article (publication date: March 2005)

Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber

scientific article published on 8 August 2014

Overexpression of peroxisome proliferator-activated receptor gamma co-activator-1alpha leads to muscle atrophy with depletion of ATP

scientific article

Pathological features of anti-Mi-2 dermatomyositis

scientific article published on 04 December 2020

Pathomechanism and prevalence of sporadic inclusion body myositis (sIBM)

scientific article published on 01 November 2011

Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy

scientific article published on 8 December 2011

Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.

scientific article published on 5 June 2016

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation

scientific article published on 04 March 2019

Phospholipid synthetic defect and mitophagy in muscle disease ⬇️

scientific article published on December 1, 2011

Plasma IP-10 level distinguishes inflammatory myopathy

scientific article published on 01 July 2015

Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population.

scientific article published on 8 March 2012

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

scientific article

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

scientific article published on 22 September 2013

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

scientific article published on 01 September 2007

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.

scientific article published on 2 February 2016

Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice

scientific article

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

scientific article

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

scientific article published in July 2003

Proteolysis of beta-dystroglycan in muscular diseases

scientific article

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy

scientific article published on 18 September 2019

Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.

scientific article published on 17 February 2016

Quantification of lectin fluorescence in GNE myopathy muscle biopsies

scientific article published on 23 April 2018

RETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification

scientific journal article

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy

scientific article published on 20 March 2006

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

scientific article

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

scientific article published on 09 March 2012

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease

scientific article published on 01 September 2007

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles

scientific article

Respiratory and cardiac function in japanese patients with dysferlinopathy

scientific article published on 18 June 2015

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

scientific article published on 02 November 2012

Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification ⬇️

scientific article published on September 17, 2010

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

scientific article published on December 2010

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)

article

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies

scientific article

Rippling is not always electrically silent in rippling muscle disease

scientific article published on 01 April 2011

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography

scientific article published on 27 April 2012

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

scientific article published on 05 June 2020

Severe lactic acidosis and neonatal death in Pearson syndrome

scientific article published on 01 March 1997

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

scientific article published on September 2006

Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)

scientific article published in January 2012

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

scientific article

Skeletal muscle FOXO1 (FKHR) transgenic mice have less skeletal muscle mass, down-regulated Type I (slow twitch/red muscle) fiber genes, and impaired glycemic control

scientific article

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency.

scientific article published on 20 February 2018

Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients

scientific article published on 27 October 2010

Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1

scientific article published on 24 March 2006

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen

scientific article published on 16 May 2018

Statins and myotoxic effects associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: an observational study in Japan

scientific article

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

scientific article

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

scientific journal article

Subcellular localization of fukutin and fukutin-related protein in muscle cells

scientific article

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

scientific article

TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathy ⬇️

scientific article published on March 9, 2011

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders

scientific article published on 6 September 2016

Teaching NeuroImages: Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy

scientific article published on 01 August 2009

Teaching NeuroImages: Unilateral arm and contralateral leg amyotrophy in FSHD: Unusual presentation

scientific article published on 01 July 2012

The cathepsin L gene is a direct target of FOXO1 in skeletal muscle

scientific article published on 15 March 2010

The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia

scientific article published on 12 August 2014

Thigh muscle MRI findings in myopathy associated with anti-mitochondrial antibody

scientific article published on 08 November 2019

Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare

scientific article published on 21 May 2013

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy

scientific article published on 18 March 2019

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B

scientific article published on 16 October 2018

Thymidine Phosphorylase Gene Mutations Cause Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

article

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

scientific article published on October 2004

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

scientific article

Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms.

scientific article published on 28 March 2017

Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy

scientific article published on 31 August 2016

Two closely spaced mutations result in Ullrich congenital muscular dystrophy

scientific article published on 26 April 2019

Two novel CAV3 gene mutations in Japanese families

scientific article published in December 2004

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.

scientific article published on 30 May 2018

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).

scientific article

Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice ⬇️

scientific article published on January 1, 2013

Unfolded protein response and aggresome formation in hereditary reducing-body myopathy

article

Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2.

scientific article

Unusual exocrine complication of pancreatitis in mitochondrial disease

scientific article published on 22 November 2012

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

scientific article

Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

scientific article published in May 2005

[A case of systemic lupus erythematosus predominantly presenting with myositis at onset].

scientific article published in January 2013

[New congenital muscular dystrophy due to CHKB mutations].

scientific article

cDNA microarray analysis of individual Duchenne muscular dystrophy patients

article

Paulina is supported by:

About Paulina

Help