A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings
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K. Anagnostopoulou | A. Tessa | F. Santorelli | E. Skouteli | A. Rubegni | D. Galatolo | R. Pons | A. Dinopoulos | A. Polymeris | S. Youroukos | A. Gika
[1] H. Houlden,et al. Hereditary Spastic Paraplegia in Greece: Characterisation of a previously unexplored population using next generation sequencing , 2015, European Journal of Human Genetics.
[2] A. Tessa,et al. De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling , 2015, Neurological Sciences.
[3] A. Ludolph,et al. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother , 2014, Journal of the Neurological Sciences.
[4] F. Santorelli,et al. Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms , 2014, Experimental Neurology.
[5] J. Fink. Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances , 2014, Seminars in Neurology.
[6] F. Pierelli,et al. Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1 , 2014, Journal of Neurology.
[7] R. Koul,et al. Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases. , 2013, Sultan Qaboos University medical journal.
[8] J. Fink,et al. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms , 2013, Acta Neuropathologica.
[9] R. Schüle,et al. Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia , 2013, Human mutation.
[10] V. Álvarez,et al. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V , 2013, Clinical genetics.
[11] A. Tessa,et al. The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy , 2013, Journal of Neurology.
[12] T. Wieland,et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. , 2012, American journal of human genetics.
[13] S. Klebe,et al. A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes , 2012, neurogenetics.
[14] R. Schüle,et al. Genetics of hereditary spastic paraplegias. , 2011, Seminars in neurology.
[15] N. Wood,et al. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males , 2011, Journal of the Neurological Sciences.
[16] C. Blackstone,et al. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. , 2011, American journal of human genetics.
[17] G. Cioni,et al. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia , 2011, European journal of neurology.
[18] B. P. Van de Warrenburg,et al. Child Neurology: Hereditary spastic paraplegia in children , 2010, Neurology.
[19] R. Pons. The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism , 2009, Journal of Inherited Metabolic Disease.
[20] N. Bresolin,et al. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia , 2008, Human mutation.
[21] P. Hedera,et al. Infantile onset of hereditary spastic paraplegia poorly predicts the genotype. , 2007, Pediatric neurology.
[22] M. Ruberg,et al. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years , 2006, Neurology.
[23] Hee-Jin Kim,et al. Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. , 2005, Archives of neurology.
[24] M. Ruberg,et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. , 2004, Archives of neurology.
[25] J. Weissenbach,et al. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A , 2004, Neurogenetics.
[26] R. Appleton,et al. ‘Pure’ and ‘Complicated’ Forms of Hereditary Spastic Paraplegia Presenting in Childhood , 1991, Developmental medicine and child neurology.
[27] A. Harding. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. , 1981, Journal of neurology, neurosurgery, and psychiatry.