Literature DB >> 32041727

Clinical Reasoning: A case of bilateral foot drop in a 74-year-old man.

Yohei Harada1, Stephan L Zuchner1, David N Herrmann1, Aravindhan Veerapandiyan2.   

Abstract

Entities:  

Year:  2020        PMID： 32041727      PMCID： PMC7238946          DOI： 10.1212/WNL.0000000000008760

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  10 in total

1.  Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).

Authors:  T Asaka; K Ikeuchi; S Okino; Y Takizawa; R Satake; E Nitta; K Komai; K Endo; S Higuchi; T Oyake; T Yoshimura; A Suenaga; E Uyama; T Saito; M Konagaya; N Sunohara; R Namba; H Takada; K Honke; M Nishina; H Tanaka; M Shinagawa; K Tanaka; A Matsushima; S Tsuji; M Takamori
Journal:  J Hum Genet       Date:  2001       Impact factor: 3.172

2.  Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.

Authors:  Pernilla von Nandelstadh; Rabah Soliymani; Marc Baumann; Olli Carpen
Journal:  Biochem J       Date:  2011-05-15       Impact factor: 3.857

Review 3.  The distal hereditary motor neuropathies.

Authors:  Alexander M Rossor; Bernadett Kalmar; Linda Greensmith; Mary M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2011-10-25       Impact factor: 10.154

4.  Myotilinopathy: refining the clinical and myopathological phenotype.

Authors:  Montse Olivé; Lev G Goldfarb; Alexey Shatunov; Dirk Fischer; Isidro Ferrer
Journal:  Brain       Date:  2005-06-09       Impact factor: 13.501

5.  Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Authors:  Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Gerd Meyer zu Horste; Klaus-Armin Nave; André Reis; Bernd Rautenstrauss
Journal:  Neurogenetics       Date:  2009-03-17       Impact factor: 2.660

6.  Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).

Authors:  P A James; J Rankin; K Talbot
Journal:  J Neurol Neurosurg Psychiatry       Date:  2008-04       Impact factor: 10.154

7.  Mutations in myotilin cause myofibrillar myopathy.

Authors:  Duygu Selcen; Andrew G Engel
Journal:  Neurology       Date:  2004-04-27       Impact factor: 9.910

8.  Study of 962 patients indicates progressive muscular atrophy is a form of ALS.

Authors:  W-K Kim; X Liu; J Sandner; M Pasmantier; J Andrews; L P Rowland; H Mitsumoto
Journal:  Neurology       Date:  2009-11-17       Impact factor: 9.910

9.  New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Authors:  A Maerkens; M Olivé; A Schreiner; S Feldkirchner; J Schessl; J Uszkoreit; K Barkovits; A K Güttsches; V Theis; M Eisenacher; M Tegenthoff; L G Goldfarb; R Schröder; B Schoser; P F M van der Ven; D O Fürst; M Vorgerd; K Marcus; R A Kley
Journal:  Acta Neuropathol Commun       Date:  2016-02-03       Impact factor: 7.801

10.  Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.

Authors:  David N Herrmann; Rita Horvath; Janet E Sowden; Michael Gonzalez; Michael Gonzales; Avencia Sanchez-Mejias; Zhuo Guan; Roger G Whittaker; Jorge L Almodovar; Maria Lane; Boglarka Bansagi; Angela Pyle; Veronika Boczonadi; Hanns Lochmüller; Helen Griffin; Patrick F Chinnery; Thomas E Lloyd; J Troy Littleton; Stephan Zuchner
Journal:  Am J Hum Genet       Date:  2014-09-04       Impact factor: 11.025
  10 in total

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