Evidence map›Paper›PMID 11898586›Full record

ReviewCurrent neurology and neuroscience reports2002

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.

Cornelius F Boerkoel, Hiroshi Takashima, James R Lupski

Abstract readReview
PubMed Publisher
In one paragraph

Review in Current neurology and neuroscience reports, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.2field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 29 citations in OpenAlex.

  1. Review
  2. Pes cavus and hereditary neuropathies: when a relationship should be suspected.Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology · 2010
    Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Cornelius F BoerkoelDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA.
Hiroshi Takashima
James R Lupski
Baylor College of Medicine · US

Funding

CMT Peripheral Neuropathy: IV. Genes and PathogenesisR01NS027042 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 1990 to 2005
$2.7M
A MURINE MODEL OF SMITH-MAGENIS SYNDROMEK08DK002738 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI BOERKOEL, CORNELIUS F · 1999 to 2003
$482k
NIDDK NIH HHS K08 DK02738NINDS NIH HHS R01 NS27042
6 · The paper itself

Abstract

Charcot-Marie-Tooth (CMT) disease represents a clinically and genetically heterogeneous group of inherited neuropathies caused by aberration of the intimate relationship between the myelin sheath and the axon; disorders causing demyelination are classified as CMT1 and those causing axonal loss as CMT2. The mechanisms by which mutations disturb the relationship of the myelin sheath and axon are not fully understood; however, we hypothesize that some mutations affect this relationship more profoundly than others, and thus account for the paradox that mutation of a "myelin gene" can present with electrophysiologic features of CMT2 and vice versa. Also, contrary to popular understanding, inherited neuropathies account for a substantial number of chronic peripheral neuropathies. Because of this observation, we propose that molecular diagnosis is a necessary adjunct for differentiating genetic and acquired peripheral neuropathies, even in sporadic chronic neuropathy.

Indexed as

Charcot-Marie-Tooth DiseaseGenes, DominantGenes, RecessiveGenetic LinkageHumansX Chromosome

Identifiers

PMID11898586
OpenAlexW2065286810

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.