1. 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

   • Alejandro Leal
   • Kathrin Huehne
   • Bernd Rautenstrauss

   Original Article Open access 17 March 2009 Pages: 275 - 287

   

2. A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

   • Esther Brusse
   • Danielle Majoor-Krakauer
   • Aida M. Bertoli-Avella

   Original Article Open access 24 April 2009 Pages: 289 - 297

   

3. The impact of spermine synthase (SMS) mutations on brain morphology

   • Shelli R. Kesler
   • Charles Schwartz
   • Allan L. Reiss

   Original Article 07 March 2009 Pages: 299 - 305

   

4. Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

   • M. A. Aldahmesh
   • Z. N. Al-Hassnan
   • F. S. Alkuraya

   Original Article 10 March 2009 Pages: 307 - 311

   

5. Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration

   • Roberto Colombo
   • Daniela Tavian
   • Stuart M. Pickering-Brown

   Original Article 14 April 2009 Pages: 313 - 318

   

6. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

   • M. Traoré
   • G. Landouré
   • K. H. Fischbeck

   Original Article Open access 26 March 2009 Pages: 319 - 323

   

7. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

   • Umut Dursun
   • Cigdem Koroglu
   • Aslıhan Tolun

   Original Article 05 May 2009 Pages: 325 - 331

   

8. Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

   • M. C. Y. de Wit
   • I. F. M. de Coo
   • G. M. S. Mancini

   Original Article Open access 22 April 2009 Pages: 333 - 336

   

9. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia

   • Kang Wang
   • Yuji Takahashi
   • Shoji Tsuji

   ORIGINAL ARTICLE 21 May 2009 Pages: 337 - 345

   

10. Lrrk2 R1441G-related Parkinson’s disease: evidence of a common founding event in the seventh century in Northern Spain

    • Ignacio F. Mata
    • Carolyn M. Hutter
    • Cyrus P. Zabetian

    Original Article 24 March 2009 Pages: 347 - 353

    

11. Ashkenazi Parkinson’s disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries

    • Anat Bar-Shira
    • Carolyn M. Hutter
    • Avi Orr-Urtreger

    Short Communication 13 March 2009 Pages: 355 - 358

    

12. A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs

    • S. Ajroud-Driss
    • F. Fecto
    • T. Siddique

    Short Communication 07 April 2009 Pages: 359 - 361

    

13. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

    • Ayelet Erez
    • Amina J. Patel
    • Seema R. Lalani

    SHORT COMMUNICATION 27 May 2009 Pages: 363 - 369

    

14. SCA27 caused by a chromosome translocation: further delineation of the phenotype

    • D. Misceo
    • M. Fannemel
    • E. Frengen

    SHORT COMMUNICATION 27 May 2009 Pages: 371 - 374

    

15. 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

    • Alejandro Leal
    • Kathrin Huehne
    • Bernd Rautenstrauss

    Erratum Open access 03 September 2009 Pages: 375 - 376

16. Acknowledgement to Referees 2008/2009

    ACKNOWLEDGEMENT TO REFEREES 01 October 2009 Pages: 377 - 378