Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis. Oncotarget (2016) 0.77

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. J Neurol (2016) 0.76

Next-generation sequencing in neuromuscular diseases. Curr Opin Neurol (2016) 0.75

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. Eur J Hum Genet (2017) 0.75

Emergencies in motoneuron disease. Intern Emerg Med (2017) 0.75

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol (2013) 2.30

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology (2014) 1.80

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology (2014) 1.73

Next generation sequencing technology: Advances and applications. Biochim Biophys Acta (2014) 1.72

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat (2009) 1.57

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol (2014) 1.40

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain (2012) 1.34

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet (2008) 1.33

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet (2011) 1.14

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. J Neurol Neurosurg Psychiatry (2010) 1.12

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat (2009) 1.07

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch Neurol (2006) 1.06

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol (2013) 1.04

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet (2011) 1.02

Molecular aspects of hereditary spastic paraplegia. Exp Cell Res (2014) 0.98

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. J Med Genet (2009) 0.96

Outcomes of haematopoietic stem cell transplantation for inherited metabolic disorders: a report from the Australian and New Zealand Children's Haematology Oncology Group and the Australasian Bone Marrow Transplant Recipient Registry. Pediatr Transplant (2013) 0.86

Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia. Eur J Med Genet (2013) 0.81

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. J Neurol Neurosurg Psychiatry (2015) 0.92