Results 121 to 130 of about 132,494 (221)

HEREDITARY SPASTIC PARAPLEGIA [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1950
openaire   +2 more sources

Novel mutation in the SPG5A gene associated with autosomal recessive hereditary spastic paraplegia: a case report

Annals of Movement Disorders
Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by progressive corticospinal tract degeneration and spasticity. Mutations in the CYP7B1 gene, which encodes a steroid-metabolizing enzyme, can lead to spastic paraplegia ...
Debayan Dutta, Jacky Ganguly, Soumava Mukherjee, Nilam Singh, Hrishikesh Kumar   +4 more
doaj   +1 more source

Coenzyme Q4 gene compound heterozygous mutations cause hereditary spastic paraplegias: a case report

Journal of Medical Case Reports
Background Complicated hereditary spastic paraplegias (complicated HSPs) are a subtype of hereditary spastic paraplegias (HSPs), which refer to a group of hereditary neurodegenerative diseases of the nervous system characterized by stiffness of the lower
YaLan Rong, LiZi Ye, Ci Liu, XiaoYan Guo
doaj   +1 more source

Methods for identifying new variant that cause hereditary spastic paraplegia and Diagnostic chip of hereditary spastic paraplegia

, 2018
본 발명은 유전성 강직성 하반신마비 (Hereditary Spastic Paraplegia; HSP) 질환의 원인 신규 변이체를 동정하는 방법, HSP 질환 원인 유전자 동정용 시스템, HSP 예측을 위한 정보 제공용 매체에 저장된 컴퓨터 프로그램, HSP 진단을 위한 정보의 제공 방법, HSP 질환 진단용 시스템, HSP 질환의 원인 진단용 칩, 및 HSP 진단용 키트에 관한 것이다 ...
김남순, 정초록, 이용재, 정경숙, 이다용, 김대수, 조은위, 이재란, 이정주, 김완태   +9 more
core  

Hereditary spastic paraplegia [PDF]

Ponsonnard S: Hereditary spastic paraplegia, 2020
openaire   +2 more sources

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

, 2003
Infancy onset hereditary spastic paraplegia associated with a novel atlastin ...
SARTORI, ELENA, BOARETTO, FRANCESCA, MOSTACCIUOLO, MARIA LUISA, ROSSETTO M.G., MARTINUZZI A., DALPOZZO F., DAGA A., BASSI M.T.   +7 more
core  

SPG4-Associated Hereditary Spastic Paraplegia and Dilated Cardiomyopathy: Coincidence or Clue? [PDF]

JACC Case Rep
Panjrath G, Dakhakhni M.
europepmc   +1 more source

Hereditary spastic paraplegia in three siblings with distinct genetic mutations. [PDF]

J Int Med Res
Lee TK, Kim KM, Lee SM, Cho SR.
europepmc   +1 more source

Vestibular rehabilitation in hereditary spastic paraplegia: a randomized pilot study. [PDF]

Arq Neuropsiquiatr
Santos GJBD, Severiano MIR, Gonçalves FM, Araujo CM, Zeigelboim BS, Teive HAG.   +5 more
europepmc   +1 more source

Dilated Cardiomyopathy in a Woman With SPG4-Associated Hereditary Spastic Paraplegia. [PDF]

JACC Case Rep
Gude S, Kleiven Ø, Edvardsen T.
europepmc   +1 more source