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Journal of Medical Genetics|November 14, 2006
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegiaChristel Depienne, Estelle Fedirko, Sylvie Forlani, et al.
JAMA Neurology|October 16, 2014
Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulinPaola Caroppo, Isabelle Le Ber, Agnès Camuzat, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 3, 2006
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutationsMichael Schüpbach, Ebba Lohmann, Mathieu Anheim, et al.
European Journal of Medical Genetics|July 30, 2013
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategyBoris Keren, Sandra Chantot-Bastaraud, Frédéric Brioude, et al.
Annals of Neurology|March 11, 2023
Differences in Survival across Monogenic Forms of Parkinson's DiseaseAymeric Lanore, Fanny Casse, Christelle Tesson, et al.
Neuroscience Letters|December 11, 2003
No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's diseaseEmmanuelle Cousin, Didier Hannequin, Sandrine Macé, et al.
The Journal of Molecular Diagnostics : JMD|January 27, 2006
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assayClaudia Cagnoli, Giovanni Stevanin, Chiara Michielotto, et al.
Orphanet Journal of Rare Diseases|November 18, 2015
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, et al.
Neurobiology of Aging|June 10, 2014
Homozygous TREM2 mutation in a family with atypical frontotemporal dementiaIsabelle Le Ber, Anne De Septenville, Rita Guerreiro, et al.
American Journal of Medical Genetics|February 22, 2002
Analysis of ten candidate genes in autism by association and linkageAnne Philippe, Michel Guilloud-Bataille, Maria Martinez, et al.
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