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Reduction of both beta cell death and alpha cell proliferation by dipeptidyl peptidase-4 inhibition in a streptozotocin-induced model of diabetes in mice

Diabetologia, 2012-02, Vol.55 (2), p.404-412

2012

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GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Neurology, 2011-09, Vol.77 (13), p.1287-1294

2011

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A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

Clinical genetics, 2016-12, Vol.90 (6), p.556-557

2016

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Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome

Neurology, 2002-09, Vol.59 (6), p.816-824

2002

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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Nature genetics, 1996-11, Vol.14 (3), p.277-284

1996

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A phenotype without spasticity in sacsin-related ataxia

Neurology, 2005-06, Vol.64 (12), p.2129-2131

2005

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Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon

Neurology, 2006-04, Vol.66 (7), p.1103-1104

2006

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16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study

Journal of the neurological sciences, 2006-09, Vol.247 (2), p.180-186

2006

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PO153 SKIN AUTOFLUORESENCE OF DIABETIC PATIENTS IS ASSOCIATED WITH 3-YEARS PROGRESSION OF DIABETIC NEPHROPATHY

Diabetes research and clinical practice, 2014-11, Vol.106, p.S124-S124

2014

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IDF21-0354 Glucoraphanin has the therapeutic potential of resolving hepatic steatosis in a murine model of diet-induced obesity

Diabetes research and clinical practice, 2022-04, Vol.186, p.109731, Article 109731

2022

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Identification of a SACS gene missense mutation in ARSACS

Neurology, 2004-01, Vol.62 (1), p.107-109

2004

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Novel SACS mutation in a Belgian family with sacsin-related ataxia

Journal of the neurological sciences, 2008-01, Vol.264 (1), p.73-76

2008

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Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations

American journal of human genetics, 1998-10, Vol.63 (4), p.1060-1066

1998

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The gene for Machado-Joseph disease maps to human chromosome 14q

Nature genetics, 1993-07, Vol.4 (3), p.300-304

1993

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations

Neurology, 2002-08, Vol.59 (4), p.590-595

2002

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Early onset insulin‐dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia

Diabetic medicine, 2006-10, Vol.23 (10), p.1136-1139

2006

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Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chromosome 19p13.1

American journal of human genetics, 1997-08, Vol.61 (2), p.336-346

1997

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GGC repeat expansion in NOTCH2NLC is the cause of both sporadic and familial neuronal intranuclear inclusion disease

Journal of the neurological sciences, 2019-10, Vol.405, p.102-102

2019

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The Role of the DAP12 Signal in Mouse Myeloid Differentiation

The Journal of immunology (1950), 2000-10, Vol.165 (7), p.3790-3796

2000

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

Lancet neurology, 2010-09, Vol.9 (9), p.875-884

2010

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Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (9), p.1024-1028

2014

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A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q

Neurology, 1994-07, Vol.44 (7), p.1302-1302

1994

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Morphological features of mitochondria in anti-mitochondrial antibodies-positive myositis

Journal of the neurological sciences, 2017-10, Vol.381, p.821-821

2017

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Recurrent aseptic meningitis in squamous-papillary craniopharyngioma: Case report

Journal of the neurological sciences, 2017-10, Vol.381, p.746-746

2017

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Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan

Journal of human genetics, 2003-03, Vol.48 (3), p.111-118

2003

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Reduction of both beta cell death and alpha cell proliferation by dipeptidyl peptidase-4 inhibition in a streptozotocin-induced model of diabetes in mice

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

A phenotype without spasticity in sacsin-related ataxia

Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon

16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study

PO153 SKIN AUTOFLUORESENCE OF DIABETIC PATIENTS IS ASSOCIATED WITH 3-YEARS PROGRESSION OF DIABETIC NEPHROPATHY

IDF21-0354 Glucoraphanin has the therapeutic potential of resolving hepatic steatosis in a murine model of diet-induced obesity

Identification of a SACS gene missense mutation in ARSACS

Novel SACS mutation in a Belgian family with sacsin-related ataxia

Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations

The gene for Machado-Joseph disease maps to human chromosome 14q

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations

Early onset insulin‐dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia

Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chromosome 19p13.1

GGC repeat expansion in NOTCH2NLC is the cause of both sporadic and familial neuronal intranuclear inclusion disease

The Role of the DAP12 Signal in Mouse Myeloid Differentiation

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

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q

Morphological features of mitochondria in anti-mitochondrial antibodies-positive myositis

Recurrent aseptic meningitis in squamous-papillary craniopharyngioma: Case report

Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan

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