A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth diseaseMARTTILA, Maria; RAUTENSTRAUSS, Bernd; HUEHNE, Kathrin et al.Journal of neurology. 2012, Vol 259, Num 8, pp 1585-1589, issn 0340-5354, 5 p.Article

Identification of Alu elements mediating a partial PMP22 deletionMATEJAS, Verena; HUEHNE, Kathrin; THIEL, Christian et al.Neurogenetics (Oxford. Print). 2006, Vol 7, Num 2, pp 119-126, issn 1364-6745, 8 p.Article

Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicityNAUMANN, Ralph; MOHM, Johannes; REUNER, Ulrike et al.British journal of haematology. 2001, Vol 115, Num 2, pp 323-325, issn 0007-1048Article

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 modelsLEAL, Alejandro; HUEHNE, Kathrin; PASUTTO, Francesca et al.Neurogenetics (Oxford. Print). 2009, Vol 10, Num 4, pp 275-287, issn 1364-6745, 13 p.Article

Profiling of WDR36 Missense Variants in German Patients with GlaucomaPASUTTO, Francesca; MARDIN, Christian Y; MICHELS-RAUTENSTRAUSS, Karin et al.Investigative ophthalmology & visual science. 2008, Vol 49, Num 1, pp 270-274, issn 0146-0404, 5 p.Article

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patientsFLEDRICH, Robert; SCHLOTTER-WEIGEL, Beate; RAUTENSTRAUSS, Bernd et al.Brain. 2012, Vol 135, pp 72-87, issn 0006-8950, 16 p., 1Article

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive charcot-marie-tooth type 4C neuropathySENDEREK, Jan; BERGMANN, Carsten; BATTALOGLU, Esra et al.American journal of human genetics. 2003, Vol 73, Num 5, pp 1106-1119, issn 0002-9297, 14 p.Article

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral NeuropathyHORVATH, Rita; HOLINSKI-FEDER, Elke; NURNBERG, Peter et al.Movement disorders. 2012, Vol 27, Num 6, pp 789-793, issn 0885-3185, 5 p.Article

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaFERNANDEZ-MARTINEZ, Lorena; LETTEBOER, Stef; ROEPMAN, Ronald et al.European journal of human genetics. 2011, Vol 19, Num 4, pp 445-451, issn 1018-4813, 7 p.Article

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1 A or HNPP: Rare CNVs as a Cause for Missing HeritabilityFENG ZHANG; SEEMAN, Pavel; KRAUSE, Klaus-Henning et al.American journal of human genetics. 2010, Vol 86, Num 6, pp 892-903, issn 0002-9297, 12 p.Article

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle GlaucomaPASUTTO, Francesca; MATSUMOTO, Tomoya; KLAVER, Caroline C. W et al.American journal of human genetics. 2009, Vol 85, Num 4, pp 447-456, issn 0002-9297, 10 p.Article

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one familyLEAL, Alejandro; BERGHOFF, Corinna; REIS, André et al.Neurogenetics (Oxford. Print). 2003, Vol 4, Num 4, pp 191-197, issn 1364-6745, 7 p.Article

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3LEAL, Alejandro; MORERA, Bernal; NEUNDÖRFER, Bernhard et al.American journal of human genetics. 2001, Vol 68, Num 1, pp 269-274, issn 0002-9297Conference Paper