UB Paderborn / Katalog / Suche / in CDI

miR‐222 attenuates cisplatin‐induced cell death by targeting the PPP2R2A/Akt/mTOR Axis in bladder cancer cells

Journal of cellular and molecular medicine, 2016-03, Vol.20 (3), p.559-567

2016

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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

Journal of medical genetics, 2019-04, Vol.56 (4), p.265

2019

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Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

The Journal of clinical investigation, 2022-05, Vol.132 (9), p.1-13

2022

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Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China

Chinese medical journal, 2020-11, Vol.133 (21), p.2616-2618

2020

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Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time

Cerebellum (London, England), 2022-06, Vol.21 (3), p.358-367

2022

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Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss

Journal of human genetics, 2017-02, Vol.62 (2), p.317-320

2017

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Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor

Brain (London, England : 1878), 2020-01, Vol.143 (1), p.222-233

2020

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

PloS one, 2014-09, Vol.9 (9), p.e106388-e106388

2014

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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

American journal of human genetics, 2019-07, Vol.105 (1), p.166-176

2019

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Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

Chinese medical journal, 2018-01, Vol.131 (2), p.151-155

2018

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Coding mutations in NUS1 contribute to Parkinson’s disease

Proceedings of the National Academy of Sciences - PNAS, 2018-11, Vol.115 (45), p.11567-11572

2018

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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

Brain (London, England : 1878), 2011-12, Vol.134 (12), p.3490-3498

2011

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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

Brain (London, England : 1878), 2010-12, Vol.133 (12), p.3510-3518

2010

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Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

Human molecular genetics, 2018-02, Vol.27 (4), p.625-637

2018

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Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases

Journal of the neurological sciences, 2020-04, Vol.411, p.116691-116691, Article 116691

2020

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miR‐222 attenuates cisplatin‐induced cell death by targeting the PPP 2R2A/Akt/ mTOR Axis in bladder cancer cells

Journal of cellular and molecular medicine, 2016-03, Vol.20 (3), p.559-567

2016

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A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia

Chinese medical journal, 2008-03, Vol.121 (5), p.430-434

2008

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Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders

Neurobiology of aging, 2013-10, Vol.34 (10), p.2442.e11-2442.e17

2013

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Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases

Neuroscience letters, 2013-09, Vol.552, p.40-45

2013

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Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family

Chinese medical journal, 2007-10, Vol.120 (19), p.1694-1699

2007

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Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families

Zhong hua yi xue za zhi, 2012-06, Vol.92 (21), p.1463-1467

2012

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Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants

Yíchuán, 2009-07, Vol.31 (7), p.705

2009

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Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease

Zhong hua yi xue za zhi, 2009-12, Vol.89 (47), p.3324-3327

2009

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Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.

Yíchuán, 2010-08, Vol.32 (8), p.817

2010

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Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia

Zhonghua yi xue yi chuan xue za zhi, 2011-06, Vol.28 (3), p.256

2011

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miR‐222 attenuates cisplatin‐induced cell death by targeting the PPP2R2A/Akt/mTOR Axis in bladder cancer cells

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China

Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time

Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

Coding mutations in NUS1 contribute to Parkinson’s disease

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases

miR‐222 attenuates cisplatin‐induced cell death by targeting the PPP 2R2A/Akt/ mTOR Axis in bladder cancer cells

A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family

Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families

Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants

Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease

Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.

Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia

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