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Hereditary spastic paraplegia
Publication
Class
Person
Publication
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publication
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
2021 |
Second Faculty of Medicine
publication
Hereditary spastic paraplegias: clinical and genetic aspects
2016 |
Second Faculty of Medicine
publication
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 |
Second Faculty of Medicine
publication
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
2019 |
Second Faculty of Medicine
publication
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients
2017 |
Second Faculty of Medicine
publication
Hereditary spastic paraplegia 3A associated with axonal neuropathy
2007 |
Second Faculty of Medicine
publication
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
2020 |
Second Faculty of Medicine
publication
Genetics of hereditary spastic paraplegias
2019 |
Second Faculty of Medicine
publication
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia
2016 |
Second Faculty of Medicine
publication
Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype
2008 |
Second Faculty of Medicine
publication
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
2020 |
Second Faculty of Medicine
publication
Neurological disorders of gait, balance and posture: a sign-based approach
2018 |
First Faculty of Medicine
publication
Tremor-spectrum in spinocerebellar ataxia type 3
2012 |
First Faculty of Medicine
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
2015 |
Second Faculty of Medicine