Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy (Q30399701)

11 September 2017

Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy (English)

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11 September 2017

17

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Julie M. Cunningham

12

object named as

Julie M Cunningham

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11 September 2017

Andreas S Beutler

1

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11 September 2017

Amit A Kulkarni

2

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11 September 2017

Rahul Kanwar

3

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11 September 2017

Christopher J Klein

4

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11 September 2017

Terry M Therneau

5

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11 September 2017

Rui Qin

6

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11 September 2017

Michaela S Banck

7

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11 September 2017

Ganesh K Boora

8

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11 September 2017

Kathryn J Ruddy

9

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11 September 2017

Yanhong Wu

10

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11 September 2017

Regenia L Smalley

11

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11 September 2017

Nguyet Anh Le-Lindqwister

13

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11 September 2017

Peter Beyerlein

14

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11 September 2017

Gary P Schroth

15

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11 September 2017

Anthony J Windebank

16

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11 September 2017

Charles L Loprinzi

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11 September 2017

17 September 2014

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11 September 2017

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11 September 2017

76

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11 September 2017

5

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11 September 2017

727-737

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Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Physician-assessed and patient-reported outcome measures in chemotherapy-induced sensory peripheral neurotoxicity: two sides of the same coin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Inherited neuropathies: clinical overview and update.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Sequencing studies in human genetics: design and interpretation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Assessing patient-reported peripheral neuropathy: the reliability and validity of the European Organization for Research and Treatment of Cancer QLQ-CIPN20 Questionnaire

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Further data supporting that paclitaxel-associated acute pain syndrome is associated with development of peripheral neuropathy: North Central Cancer Treatment Group trial N08C1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Testing for an unusual distribution of rare variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Natural history of paclitaxel-associated acute pain syndrome: prospective cohort study NCCTG N08C1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Signs and symptoms versus nerve conduction studies to diagnose diabetic sensorimotor polyneuropathy: Cl vs. NPhys trial

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Vincristine treatment triggering the expression of asymptomatic Charcot-Marie-Tooth disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Polyneuropathy Following Vincristine Therapy in Two Patients With Charcot-Marie-Tooth Syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Severe vincristine neurotoxicity in a patient with Charcot-Marie-Tooth disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24265

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24265

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4388308

Population-based Survival of Cancer Patients Diagnosed Between 1993 and 1999 in Japan: A Chronological and International Comparative Study

26 November 2018

1 reference

12 December 2020

Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity

1 reference

12 December 2020

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation

1 reference

12 December 2020

The development of an EORTC quality of life questionnaire to assess chemotherapy-induced peripheral neuropathy: the QLQ-CIPN20

1 reference

12 December 2020

A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.24265

1 reference

11 September 2017

1 reference

11 September 2017

PubMed publication ID

25164601

1 reference