Literature DB >> 27669695

Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.

Martino Ruggieri1, Andrea D Praticò2,3, Agostino Serra4, Luigi Maiolino4, Salvatore Cocuzza4, Rosario Caltabiano5, Agata Polizzi6.   

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Year:  2016        PMID： 27669695     DOI： 10.1007/s00381-016-3226-8

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


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  49 in total

1.  Neurofibromatosis: why not Smith's disease?

Authors:  J B Lyons; H Staunton
Journal:  J Hist Neurosci       Date:  1992-01       Impact factor: 0.529

2.  Report of a neurofibromatosis-like case: Monstrorum Historia, 1642.

Authors:  P Madigan; M J Masello
Journal:  Neurofibromatosis       Date:  1989

Review 3.  The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

Authors:  M Ruggieri; S M Huson
Journal:  Neurology       Date:  2001-06-12       Impact factor: 9.910

4.  Von Recklinghausen's neurofibromatosis.

Authors:  R H Wilkins; I A Brody
Journal:  Arch Neurol       Date:  1971-04

5.  Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.

Authors:  M Ruggieri; P Iannetti; A Polizzi; I La Mantia; A Spalice; O Giliberto; N Platania; A L Gabriele; V Albanese; L Pavone
Journal:  Neuropediatrics       Date:  2005-02       Impact factor: 1.947

6.  Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

Authors:  Miriam J Smith; Anjana Kulkarni; Cecilie Rustad; Naomi L Bowers; Andrew J Wallace; Susan E Holder; Arvid Heiberg; Richard T Ramsden; D Gareth Evans
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

7.  Translation of case reports in Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen by F. v. Recklinghausen.

Authors:  T Crump
Journal:  Adv Neurol       Date:  1981

Review 8.  Ohtahara syndrome with emphasis on recent genetic discovery.

Authors:  Piero Pavone; Alberto Spalice; Agata Polizzi; Pasquale Parisi; Martino Ruggieri
Journal:  Brain Dev       Date:  2011-10-02       Impact factor: 1.961

9.  Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.

Authors:  M M Cohen
Journal:  Neurofibromatosis       Date:  1988

10.  Robert William Smith: his life and his contributions to medicine.

Authors:  Hriday M Shah; Kevin C Chung
Journal:  J Hand Surg Am       Date:  2008 Jul-Aug       Impact factor: 2.230
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  3 in total

1.  Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).

Authors:  Martino Ruggieri; Andrea D Praticò; Rosario Caltabiano; Agata Polizzi
Journal:  Neurol Sci       Date:  2017-01-11       Impact factor: 3.307

2.  Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Authors:  Martino Ruggieri; Agata Polizzi; Gioacchino Paolo Marceca; Stefano Catanzaro; Andrea D Praticò; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2020-09-17       Impact factor: 1.475

Review 3.  Neurocutaneous syndromes in art and antiquities.

Authors:  Martino Ruggieri; Amalia Egle Gentile; Vincenza Ferrara; Massimo Papi; Andrea D Praticò; Albert Mudry; Domenica Taruscio; Giuseppe Micali; Agata Polizzi
Journal:  Am J Med Genet C Semin Med Genet       Date:  2021-05-20       Impact factor: 3.908
  3 in total

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