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Hereditary Spastic Paraplegia
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publication
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
2021 |
2. lékařská fakulta
publication
Hereditární spastické paraparézy: klinické a genetické aspekty
2016 |
2. lékařská fakulta
publication
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 |
2. lékařská fakulta
publication
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
2019 |
2. lékařská fakulta
publication
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients
2017 |
2. lékařská fakulta
publication
Hereditary spastic paraplegia 3A associated with axonal neuropathy
2007 |
2. lékařská fakulta
publication
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
2020 |
2. lékařská fakulta
publication
Genetika hereditárních spastických paraplegií
2019 |
2. lékařská fakulta
publication
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia
2016 |
2. lékařská fakulta
publication
Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype
2008 |
2. lékařská fakulta
publication
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
2020 |
2. lékařská fakulta
publication
Neurological disorders of gait, balance and posture: a sign-based approach
2018 |
1. lékařská fakulta
publication
Tremor-spectrum in spinocerebellar ataxia type 3
2012 |
1. lékařská fakulta
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022 |
1. lékařská fakulta, 2. lékařská fakulta
publication
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
2015 |
2. lékařská fakulta