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 LealKathrin HuehneBernd Rautenstrauss Original Article Open access 17 March 2009 Pages: 275 - 287
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? Esther BrusseDanielle Majoor-KrakauerAida M. Bertoli-Avella Original Article Open access 24 April 2009 Pages: 289 - 297
The impact of spermine synthase (SMS) mutations on brain morphology Shelli R. KeslerCharles SchwartzAllan L. Reiss Original Article 07 March 2009 Pages: 299 - 305
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging M. A. AldahmeshZ. N. Al-HassnanF. S. Alkuraya Original Article 10 March 2009 Pages: 307 - 311
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration Roberto ColomboDaniela TavianStuart M. Pickering-Brown Original Article 14 April 2009 Pages: 313 - 318
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease M. TraoréG. LandouréK. H. Fischbeck Original Article Open access 26 March 2009 Pages: 319 - 323
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1 Umut DursunCigdem KorogluAslıhan Tolun Original Article 05 May 2009 Pages: 325 - 331
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation M. C. Y. de WitI. F. M. de CooG. M. S. Mancini Original Article Open access 22 April 2009 Pages: 333 - 336
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia Kang WangYuji TakahashiShoji Tsuji ORIGINAL ARTICLE 21 May 2009 Pages: 337 - 345
Lrrk2 R1441G-related Parkinson’s disease: evidence of a common founding event in the seventh century in Northern Spain Ignacio F. MataCarolyn M. HutterCyrus P. Zabetian Original Article 24 March 2009 Pages: 347 - 353
Ashkenazi Parkinson’s disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries Anat Bar-ShiraCarolyn M. HutterAvi Orr-Urtreger Short Communication 13 March 2009 Pages: 355 - 358
A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs S. Ajroud-DrissF. FectoT. Siddique Short Communication 07 April 2009 Pages: 359 - 361
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder Ayelet ErezAmina J. PatelSeema R. Lalani SHORT COMMUNICATION 27 May 2009 Pages: 363 - 369
SCA27 caused by a chromosome translocation: further delineation of the phenotype D. MisceoM. FannemelE. Frengen SHORT COMMUNICATION 27 May 2009 Pages: 371 - 374
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 LealKathrin HuehneBernd Rautenstrauss Erratum Open access 03 September 2009 Pages: 375 - 376