Hereditary spastic paraplegias: an update
C Depienne, G Stevanin, A Brice… - Current opinion in …, 2007 - journals.lww.com
Hereditary spastic paraplegias: an update : Current Opinion in Neurology Hereditary spastic
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Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration
Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
G Stevanin, FM Santorelli, H Azzedine, P Coutinho… - Nature …, 2007 - nature.com
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum
(TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to …
(TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to …
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
G Stevanin, H Azzedine, P Denora, A Boukhris, M Tazir… - Brain, 2008 - academic.oup.com
Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized
by lower limb spasticity associated, in complicated forms, with additional neurological signs …
by lower limb spasticity associated, in complicated forms, with additional neurological signs …
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
S Hanein, E Martin, A Boukhris, P Byrne… - The American Journal of …, 2008 - cell.com
Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous
disorders. Both" uncomplicated" and" complicated" forms have been described with various …
disorders. Both" uncomplicated" and" complicated" forms have been described with various …
Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia
Abstract Objective Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group
of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One …
of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One …
Musician's dystonia and comorbid anxiety: two sides of one coin?
Background: Psychological abnormalities, including anxiety, have been observed in patients
with musician's dystonia (MD). It is unclear if these conditions develop prior to MD or if they …
with musician's dystonia (MD). It is unclear if these conditions develop prior to MD or if they …
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism
A Guidubaldi, C Piano, FM Santorelli… - Movement …, 2011 - Wiley Online Library
Background: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is
a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment …
a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment …
Hereditary spastic paraplegia
JK Fink - Neurologic clinics, 2002 - neurologic.theclinics.com
Hereditary spastic paraplegia (HSP; also known as familial spastic paraplegia [FSP] and
Strumpell-Lorrain syndrome)[1] is a syndromic designation for inherited disorders in which …
Strumpell-Lorrain syndrome)[1] is a syndromic designation for inherited disorders in which …
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron
disease recognized worldwide. We investigated a total of 25 consanguineous families from …
disease recognized worldwide. We investigated a total of 25 consanguineous families from …