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Novel Genetic Variation in the KIF1A Gene Associated With Cerebellar Vermis Hypoplasia: A Case Report. [PDF]
CureusLacourt Sosa GL +3 more
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Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report. [PDF]
Am J Transl ResXia D +5 more
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Neurologic Clinics, 2002
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders. HSP is classified according to the mode of inheritance, the HSP locus when known, and whether the spastic paraplegia syndrome occurs alone or is accompanied by additional neurologic or systemic abnormalities.
Christopher J, McDermott, Pamela J, Shaw
+8 more sources
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders. HSP is classified according to the mode of inheritance, the HSP locus when known, and whether the spastic paraplegia syndrome occurs alone or is accompanied by additional neurologic or systemic abnormalities.
Christopher J, McDermott, Pamela J, Shaw
+8 more sources
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
Movement Disorders, 2023Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by progressive lower‐extremity spasticity. Despite the identification of several HSP‐related genes, many patients lack a genetic diagnosis.
Xiang Lin +18 more
semanticscholar +1 more source
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Experimental Neurology, 2022Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and weakness of the lower limbs resulting from distal degeneration of corticospinal tract axons.
Emanuele Panza +2 more
semanticscholar +1 more source
Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children
Developmental Medicine & Child Neurology, 2022To explore the clinical and genetic spectrum of hereditary spastic paraplegia (HSP) in Chinese children.
Jiaping Wang +9 more
semanticscholar +1 more source
Journal of Pediatric Orthopaedics, 1988
Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. Our experience consists of six families with a total of 26 affected members.
S C, Dennis, N E, Green
openaire +2 more sources
Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. Our experience consists of six families with a total of 26 affected members.
S C, Dennis, N E, Green
openaire +2 more sources
Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia — The SPASTOX Trial
Movement Disorders, 2021Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management with botulinum toxin type A (BoNT‐A) is not well elucidated.
Fabricio Diniz de Lima +11 more
semanticscholar +1 more source