Literature DB >> 23263778

Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.

Marco Luigetti1, Marcella Zollino, Guido Conti, Angela Romano, Mario Sabatelli.   

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Year:  2012        PMID： 23263778     DOI： 10.1007/s10072-012-1277-5

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  8 in total

1.  Auditory function in children with Charcot-Marie-Tooth disease.

Authors:  Gary Rance; Monique M Ryan; Kristen Bayliss; Kathryn Gill; Caitlin O'Sullivan; Marny Whitechurch
Journal:  Brain       Date:  2012-04-19       Impact factor: 13.501

2.  Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations.

Authors:  W I M Verhagen; P L M Huygen; A A W M Gabreëls-Festen; M Engelhart; P J W B van Mierlo; B G M van Engelen
Journal:  Otol Neurotol       Date:  2005-05       Impact factor: 2.311

Review 3.  Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

Authors:  E Nelis; N Haites; C Van Broeckhoven
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

4.  A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

Authors:  In Soo Joo; Chang-Seok Ki; Sung Yeol Joo; Kyoon Huh; Jong-Won Kim
Journal:  Neuromuscul Disord       Date:  2004-05       Impact factor: 4.296

Review 5.  Diagnosis and new treatments in genetic neuropathies.

Authors:  M M Reilly; M E Shy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-12       Impact factor: 10.154

6.  A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Authors:  Marco Luigetti; Amelia Conte; Francesca Madia; Maria Lucia Mereu; Marcella Zollino; Giuseppe Marangi; Maria Grazia Pomponi; Giuseppe Liberatore; Pietro Altilio Tonali; Mario Sabatelli
Journal:  Muscle Nerve       Date:  2008-08       Impact factor: 3.217

7.  Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Authors:  Federica Taioli; Ilaria Cabrini; Tiziana Cavallaro; Michele Acler; Gian Maria Fabrizi
Journal:  Brain       Date:  2011-01-19       Impact factor: 13.501

8.  Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication.

Authors:  A Uncini; G Di Guglielmo; A Di Muzio; D Gambi; M Sabatelli; T Mignogna; P Tonali; R Marzella; P Finelli; N Archidiacono
Journal:  Muscle Nerve       Date:  1995-06       Impact factor: 3.217
  8 in total
  4 in total

Review 1.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

2.  Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.

Authors:  Xiaoxuan Liu; Xiaohui Duan; Yingshuang Zhang; Dongsheng Fan
Journal:  Front Neurol       Date:  2020-07-03       Impact factor: 4.003

3.  Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Authors:  Justine Lerat; Corinne Magdelaine; Anne-Françoise Roux; Léa Darnaud; Hélène Beauvais-Dzugan; Steven Naud; Laurence Richard; Paco Derouault; Karima Ghorab; Laurent Magy; Jean-Michel Vallat; Pascal Cintas; Eric Bieth; Marie-Christine Arne-Bes; Cyril Goizet; Caroline Espil-Taris; Hubert Journel; Annick Toutain; Jon Andoni Urtizberea; Odile Boespflug-Tanguy; Fanny Laffargue; Philippe Corcia; Laurent Pasquier; Mélanie Fradin; Sylva Napuri; Jonathan Ciron; Jean-Marc Boulesteix; Franck Sturtz; Anne-Sophie Lia
Journal:  Mol Genet Genomic Med       Date:  2019-08-08       Impact factor: 2.183

4.  Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Authors:  Na Young Jung; Hye Mi Kwon; Da Eun Nam; Nasrin Tamanna; Ah Jin Lee; Sang Beom Kim; Byung-Ok Choi; Ki Wha Chung
Journal:  Genes (Basel)       Date:  2022-07-08       Impact factor: 4.141
  4 in total

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