Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management M. AnheimM. FleuryM. Koenig ORIGINAL ARTICLE 14 May 2009 Pages: 1 - 12
U1 snRNA mis-binding: a new cause of CMT1B Hervé CrehaletPhilippe LatourDominique Bozon ORIGINAL ARTICLE 28 May 2009 Pages: 13 - 19
A novel variation in the Twinkle linker region causing late-onset dementia Andoni Echaniz-LagunaJean-Baptiste ChansonBénédicte Mousson de Camaret ORIGINAL ARTICLE 10 June 2009 Pages: 21 - 25
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy Qods Ymlahi-OuazzaniOdile J. BronchainNicolas Pollet ORIGINAL ARTICLE 11 June 2009 Pages: 27 - 40
COL25A1 triggers and promotes Alzheimer’s disease-like pathology in vivo Ying TongYing XuYing-Hui Fu ORIGINAL ARTICLE Open access 23 June 2009 Pages: 41 - 52
A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice Alexis Tapanes-CastilloEli J. WeaverVance P. Lemmon ORIGINAL ARTICLE 30 June 2009 Pages: 53 - 71
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation Costanza BacciRoberta SestiniLaura Papi ORIGINAL ARTICLE 07 July 2009 Pages: 73 - 80
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder Martin PootVera BeyerThomas Haaf ORIGINAL ARTICLE 07 July 2009 Pages: 81 - 89
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin Giovanni AiroldiAndrea GuidarelliMaria Teresa Bassi ORIGINAL ARTICLE 11 July 2009 Pages: 91 - 100
Identification of CACNA1A large deletions in four patients with episodic ataxia Florence RiantChristelle LescoatElisabeth Tournier-Lasserve ORIGINAL ARTICLE 25 July 2009 Pages: 101 - 106
Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice Silke NuberThomas FranckOlaf Riess ORIGINAL ARTICLE 17 September 2009 Pages: 107 - 120
LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease Z. Gan-OrA. Bar-ShiraA. Orr-Urtreger SHORT COMMUNICATION 21 May 2009 Pages: 121 - 125
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease Virginie GuilletNaïg GueguenArnaud Chevrollier SHORT COMMUNICATION 18 July 2009 Pages: 127 - 133
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes Silmara P. GouveaVinícius H. S. BorghettiWilson Marques Jr. SHORT COMMUNICATION 25 August 2009 Pages: 135 - 138
Sequence variation in SORL1 and dementia risk in Swedes Chandra A. ReynoldsMun-Gwan HongJonathan A. Prince SHORT COMMUNICATION 04 August 2009 Pages: 139 - 142
Prader–Willi syndrome, Snord115, and Htr2c editing Heather Glatt-DeeleyDaria L. BancescuMarc Lalande LETTER TO THE EDITORS 04 August 2009 Pages: 143 - 144