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RILPL1-related OPDM is absent in a Japanese cohort

American journal of human genetics, 2022-11, Vol.109 (11), p.2088-2089

2022

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Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility

Cell reports (Cambridge), 2018-02, Vol.22 (6), p.1473-1483

2018

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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Nature communications, 2021-04, Vol.12 (1), p.2046-2046, Article 2046

2021

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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Journal of human genetics, 2017-04, Vol.62 (4), p.503-506

2017

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Causative variant profile of collagen VI-related dystrophy in Japan

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.1-284, Article 284

2021

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SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Journal of bone and mineral research, 2022-02, Vol.37 (2), p.226-235

2022

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Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Journal of human genetics, 2017-03, Vol.62 (3), p.437-441

2017

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A recurrent homozygous ACTN2 variant associated with core myopathy

Acta neuropathologica, 2021-10, Vol.142 (4), p.785-788

2021

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COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

Annals of neurology, 2019-08, Vol.86 (2), p.193-202

2019

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Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Journal of human genetics, 2017-03, Vol.62 (3), p.447-451

2017

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Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Scientific reports, 2022-12, Vol.12 (1), p.21806-21806, Article 21806

2022

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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Genetics in medicine, 2019-07, Vol.21 (7), p.1629-1638

2019

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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

Acta neuropathologica communications, 2022-12, Vol.10 (1), p.176-176, Article 176

2022

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Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease

Human molecular genetics, 2005-11, Vol.14 (22), p.3499-3506

2005

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Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN

Brain & development (Tokyo. 1979), 2022-01, Vol.44 (1), p.50-55

2022

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Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report

Brain & development (Tokyo. 1979), 2022-09, Vol.44 (8), p.551-557

2022

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An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis

Nature genetics, 2005-02, Vol.37 (2), p.138-144

2005

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Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-α secretion in vitro

Nature, 2004-05, Vol.429 (6987), p.72-75

2004

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Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians

Neurobiology of aging, 2011-04, Vol.32 (4), p.757.e13-757.e14

2011

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Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

Neurobiology of aging, 2012-08, Vol.33 (8), p.1843.e19-1843.e24

2012

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Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

Neurobiology of aging, 2012-04, Vol.33 (4), p.786-790

2012

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A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Human genome variation, 2019, Vol.6 (1), p.19-19, Article 19

2019

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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

PloS one, 2016-03, Vol.11 (3), p.e0150555-e0150555

2016

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Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

Journal of human genetics, 2013-06, Vol.58 (6), p.391-394

2013

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RILPL1-related OPDM is absent in a Japanese cohort

Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Causative variant profile of collagen VI-related dystrophy in Japan

SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

A recurrent homozygous ACTN2 variant associated with core myopathy

Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease

Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN

Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report

An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis

Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-α secretion in vitro

Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

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