List of works by Yi-Chung Lee

A Case of GNE Myopathy Mimicking Hereditary Motor Neuropathy

scientific article published on 28 August 2020

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan

scientific article published on 5 June 2012

A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function

scientific article published on 23 February 2017

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.

scientific article published on 22 March 2017

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

scientific article published on 9 November 2011

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

scientific article published on 7 May 2015

Alteration of proximal conduction velocity at distal nerve injury in carpal tunnel syndrome: demyelinating versus axonal change

scientific article published on 01 June 2008

Bromism caused by mix-formulated analgesic injectables

scientific article published in December 2007

C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome.

scientific article

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes

scientific article published on 12 May 2010

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese

article

Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy's disease): a pilot study of PET.

scientific article published on 21 September 2013

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease

scientific article published on 12 June 2018

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan

scientific article published on 04 May 2020

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy

scientific article

Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy.

scientific article published on 10 November 2017

Clinical and biophysical characterization of 19 GJB1 mutations.

scientific article published on September 2016

Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan

scientific article published on 09 April 2019

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

scientific article published on 22 March 2020

Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study

scientific article published on 29 August 2015

Cognitive reserve: a SPECT study of 132 Alzheimer's disease patients with an education range of 0-19 years.

scientific article published on 12 April 2005

Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan

scientific article published on 14 February 2007

Comparable progression of spinocerebellar ataxias between Caucasians and Chinese

scientific article published on 21 December 2018

Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment

scientific article

Comparison of sensitivity of transcarpal median motor conduction velocity and conventional conduction techniques in electrodiagnosis of carpal tunnel syndrome

scientific article published on 23 March 2006

Connectivity features for identifying cognitive impairment in presymptomatic carotid stenosis

scientific article published on 15 January 2014

Cutoff scores of the cognitive abilities screening instrument, Chinese version in screening of dementia.

scientific article published in January 2002

Electrodiagnosis of carpal tunnel syndrome: which transcarpal conduction technique is best?

scientific article published on 01 October 2009

Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan

scientific article published on 29 April 2012

Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.

scientific article published on 21 February 2013

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis

scientific article published on 11 May 2014

Eye of the tiger-like MRI in parkinsonian variant of multiple system atrophy

scientific article published on 7 May 2009

FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.

scientific article published on 29 September 2012

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

scientific article

Fatigue in colchicine myopathy: a study of transcranial magnetic stimulation

scientific article published on December 2010

Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report.

scientific article

Genetic analysis of ANXA11 variants in a Han Chinese cohort with amyotrophic lateral sclerosis in Taiwan

scientific article published on 10 July 2018

Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant

scientific article published on 27 May 2020

Incidental findings on brain magnetic resonance imaging: systematic review and meta-analysis

scientific article

Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.

scientific article

Investigating CYP2C19 loss-of-function allele statuses and their association with stroke of different etiologies in a Taiwanese population

scientific article published on 01 June 2019

Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia

scientific article published on 07 August 2019

Longitudinal cerebral perfusion decrease in mild alzheimer's disease revealed by SPECT with statistical parametric mapping method.

scientific article published on 29 June 2004

MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.

scientific article published in January 2008

Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation

scientific article published on 01 February 2005

Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers

scientific article published on 24 December 2009

Motor neuron disease-like syndrome secondary to trapped fourth ventricle and obstruction of cerebrospinal fluid pathway

scientific article published on 2 February 2007

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

scientific article

Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan

scientific article published on 22 May 2018

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

scientific article published on 29 November 2017

Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis

scientific article

Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis

scientific article published on 5 January 2016

Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy

scientific article published on 2 July 2013

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

scientific article published in March 2018

Mutations in KCND3 cause spinocerebellar ataxia type 22.

scientific article

Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.

scientific article published in April 2004

NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population

scientific article published on 02 December 2019

Occipital lobe seizures related to marked elevation of hemoglobin A1C: report of two cases

scientific article published on 16 June 2010

Plasma amyloid assay as a pre-screening tool for amyloid positron emission tomography imaging in early stage Alzheimer's disease

scientific article published on 27 December 2019

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese

scientific article published on 26 February 2009

Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory

scientific article published on 23 April 2019

Prolonged central motor conduction time of lower limb muscle in spinocerebellar ataxia 6.

scientific article published in May 2004

Prolonged cortical relay time of long latency reflex and central motor conduction in patients with spinocerebellar ataxia type 6.

scientific article published in March 2003

Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation

scientific article published on 06 August 2020

Reply: A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family

scientific article published on 01 September 2019

Selective hypoperfusion of anterior cingulate gyrus in depressed AD patients: a brain SPECT finding by statistical parametric mapping

scientific article

Spastic paraparesis as a manifestation of metabolic vitamin B12 deficiency: a case report

scientific article published in April 2005

Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization

scientific article

Spinocerebellar ataxia type 36 in the Han Chinese

scientific article

Statistical parametric mapping of brain SPECT perfusion abnormalities in patients with Alzheimer's disease

scientific article published in January 2003

The 'hot cross bun' sign in the patients with spinocerebellar ataxia

scientific article published in April 2009

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

scientific article

The real role of forearm mixed nerve conduction velocity in the assessment of proximal forearm conduction slowing in carpal tunnel syndrome

scientific article published on 01 December 2008

The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age.

scientific article published in March 2009

The role of forearm mixed nerve conduction study in the evaluation of proximal conduction slowing in carpal tunnel syndrome

scientific article published on 30 October 2008

Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan

scientific article published on 21 August 2009

Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression

scientific article published on 26 November 2007

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

scientific article published on 5 August 2015

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.

scientific article

Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis

scientific article published on 14 July 2014

Visual cortex excitability and plasticity associated with remission from chronic to episodic migraine

scientific article published on 23 April 2012

What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases

scientific article

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