Literature DB >> 21587243

Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease.

José Berciano1.   

Abstract

Charcot–Marie–Tooth disease (CMT) is a hereditary neuropathy attributed to mutations in more than 30 different genes. A recent study identified the causative mutation in 67% of 787 screened patients with CMT, and the findings raise important issues concerning genetic testing for CMT.

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Year:  2011        PMID： 21587243     DOI： 10.1038/nrneurol.2011.72

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  8 in total

1.  Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

Authors:  Anita S D Saporta; Stephanie L Sottile; Lindsey J Miller; Shawna M E Feely; Carly E Siskind; Michael E Shy
Journal:  Ann Neurol       Date:  2011-01       Impact factor: 10.422

Review 2.  Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.

Authors:  Davide Pareyson; Chiara Marchesi
Journal:  Lancet Neurol       Date:  2009-07       Impact factor: 44.182

Review 3.  Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Authors:  O Dubourg; H Azzedine; C Verny; G Durosier; N Birouk; R Gouider; M Salih; A Bouhouche; A Thiam; D Grid; M Mayer; M Ruberg; M Tazir; A Brice; E LeGuern
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

4.  The death panel for Charcot-Marie-Tooth panels.

Authors:  Anthony A Amato; Mary M Reilly
Journal:  Ann Neurol       Date:  2011-01       Impact factor: 10.422

Review 5.  From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.

Authors:  A E Harding
Journal:  Brain       Date:  1995-06       Impact factor: 13.501

6.  Evolution of foot and ankle manifestations in children with CMT1A.

Authors:  Joshua Burns; Monique M Ryan; Robert A Ouvrier
Journal:  Muscle Nerve       Date:  2009-02       Impact factor: 3.217

Review 7.  Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation.

Authors:  J D England; G S Gronseth; G Franklin; G T Carter; L J Kinsella; J A Cohen; A K Asbury; K Szigeti; J R Lupski; N Latov; R A Lewis; P A Low; M A Fisher; D N Herrmann; J F Howard; G Lauria; R G Miller; M Polydefkis; A J Sumner
Journal:  Neurology       Date:  2008-12-03       Impact factor: 9.910

8.  Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication.

Authors:  José Berciano; Antonio García; Onofre Combarros
Journal:  Muscle Nerve       Date:  2003-01       Impact factor: 3.217
  8 in total
  7 in total

1.  Perrault syndrome: further evidence for genetic heterogeneity.

Authors:  Emma M Jenkinson; Jill Clayton-Smith; Sarju Mehta; Christopher Bennett; Willie Reardon; Andrew Green; Simon H S Pearce; Giuseppe De Michele; Gerard S Conway; Deirdre Cilliers; Natalie Moreton; Julian R E Davis; Dorothy Trump; William G Newman
Journal:  J Neurol       Date:  2011-10-27       Impact factor: 4.849

Review 2.  The puzzle of TRPV4 channelopathies.

Authors:  Bernd Nilius; Thomas Voets
Journal:  EMBO Rep       Date:  2013-01-11       Impact factor: 8.807

Review 3.  Charcot-Marie-Tooth disease and intracellular traffic.

Authors:  Cecilia Bucci; Oddmund Bakke; Cinzia Progida
Journal:  Prog Neurobiol       Date:  2012-03-22       Impact factor: 11.685

4.  GSK3β is involved in the relief of mitochondria pausing in a Tau-dependent manner.

Authors:  María Llorens-Martín; Guillermo López-Doménech; Eduardo Soriano; Jesús Avila
Journal:  PLoS One       Date:  2011-11-14       Impact factor: 3.240

5.  Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.

Authors:  Jorge A Pereira; Joanne Gerber; Monica Ghidinelli; Daniel Gerber; Luigi Tortola; Andrea Ommer; Sven Bachofner; Francesco Santarella; Elisa Tinelli; Shuo Lin; Markus A Rüegg; Manfred Kopf; Klaus V Toyka; Ueli Suter
Journal:  Hum Mol Genet       Date:  2020-05-28       Impact factor: 6.150

6.  Sciatic neuropathy: findings on magnetic resonance neurography.

Authors:  Paulo Moraes Agnollitto; Marcio Wen King Chu; Marcelo Novelino Simão; Marcello Henrique Nogueira-Barbosa
Journal:  Radiol Bras       Date:  2017 May-Jun

7.  Schwann cells, but not Oligodendrocytes, Depend Strictly on Dynamin 2 Function.

Authors:  Daniel Gerber; Monica Ghidinelli; Elisa Tinelli; Christian Somandin; Joanne Gerber; Jorge A Pereira; Andrea Ommer; Gianluca Figlia; Michaela Miehe; Lukas G Nägeli; Vanessa Suter; Valentina Tadini; Páris Nm Sidiropoulos; Carsten Wessig; Klaus V Toyka; Ueli Suter
Journal:  Elife       Date:  2019-01-16       Impact factor: 8.140
  7 in total

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