Literature DB >> 16607474

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.

Roberta Biancheri, Federico Zara, Pasquale Striano, Marina Pedemonte, Denise Cassandrini, Silvia Stringara, Fiore Manganelli, Lucio Santoro, Angelo Schenone, Emilia Bellone, Carlo Minetti.   

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Year:  2006        PMID： 16607474     DOI： 10.1007/s00415-006-0149-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  8 in total

1.  CMT with pyramidal features. Charcot-Marie-Tooth.

Authors:  S Vucic; M Kennerson; D Zhu; E Miedema; C Kok; G A Nicholson
Journal:  Neurology       Date:  2003-02-25       Impact factor: 9.910

2.  Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

Authors:  D Zhu; M L Kennerson; G Walizada; S Züchner; J M Vance; G A Nicholson
Journal:  Neurology       Date:  2005-08-09       Impact factor: 9.910

3.  Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

Authors:  C Barhoumi; R Amouri; C Ben Hamida; M Ben Hamida; S Machghoul; M Gueddiche; F Hentati
Journal:  Neuromuscul Disord       Date:  2001-01       Impact factor: 4.296

4.  GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

Authors:  Laia Pedrola; Antonio Espert; Xingyao Wu; Reyes Claramunt; Michael E Shy; Francesc Palau
Journal:  Hum Mol Genet       Date:  2005-03-16       Impact factor: 6.150

5.  The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Authors:  Ana Cuesta; Laia Pedrola; Teresa Sevilla; Javier García-Planells; María José Chumillas; Fernando Mayordomo; Eric LeGuern; Ignacio Marín; Juan J Vílchez; Francesc Palau
Journal:  Nat Genet       Date:  2001-12-17       Impact factor: 38.330

6.  Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

Authors:  Rachel V Baxter; Kamel Ben Othmane; Julie M Rochelle; Jason E Stajich; Christine Hulette; Susan Dew-Knight; Faycal Hentati; Mongi Ben Hamida; S Bel; Judy E Stenger; John R Gilbert; Margaret A Pericak-Vance; Jeffery M Vance
Journal:  Nat Genet       Date:  2001-12-17       Impact factor: 38.330

7.  Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Authors:  E Nelis; S Erdem; P Y K Van Den Bergh; M-C Belpaire-Dethiou; C Ceuterick; V Van Gerwen; A Cuesta; L Pedrola; F Palau; A A W M Gabreëls-Festen; C Verellen; E Tan; M Demirci; C Van Broeckhoven; P De Jonghe; H Topaloglu; V Timmerman
Journal:  Neurology       Date:  2002-12-24       Impact factor: 9.910

8.  A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.

Authors:  E Di Maria; R Gulli; P Balestra; D Cassandrini; S Pigullo; L Doria-Lamba; M Bado; A Schenone; F Ajmar; P Mandich; E Bellone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-10       Impact factor: 10.154
  8 in total
  2 in total

1.  Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

Authors:  M Auer-Grumbach; C Fischer; L Papić; E John; B Plecko; R E Bittner; G Bernert; T R Pieber; G Miltenberger; R Schwarz; C Windpassinger; F Grill; V Timmerman; M R Speicher; A R Janecke
Journal:  Neuropediatrics       Date:  2008-02       Impact factor: 1.947

2.  The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.

Authors:  Rui Wu; He Lv; Hui Wang; Zhaoxia Wang; Yun Yuan
Journal:  Front Neurosci       Date:  2021-07-22       Impact factor: 4.677
  2 in total

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