An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

2017 ◽  
Vol 62 (11) ◽  
pp. 997-1000 ◽  
Author(s):  
Gaku Minase ◽  
Satoko Miyatake ◽  
Shin Nabatame ◽  
Hiroshi Arai ◽  
Eriko Koshimizu ◽  
...  
Keyword(s):  
Spastic Paraplegia ◽  
Atypical Case ◽  
Delayed Myelination

scholarly journals A case of de novo splice site variant inSLC35A2showing developmental delays, spastic paraplegia, and delayed myelination

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Sachiko Miyamoto ◽  
Mitsuko Nakashima ◽  
Tsukasa Ohashi ◽  
Takuya Hiraide ◽  
Kenji Kurosawa ◽  
...  
Keyword(s):  
Splice Site ◽  
Developmental Delays ◽  
De Novo ◽  
Spastic Paraplegia ◽  
Splice Site Variant ◽  
Delayed Myelination

An atypical case of spastic paraplegia type 11 mimicking a GM2 gangliosidoses

2021 ◽  
Vol 429 ◽  
pp. 118254
Author(s):  
Diego Lopergolo ◽  
Gianna Berti ◽  
Francesca Mari ◽  
Enrico Bertini ◽  
Carla Battisti ◽  
...  
Keyword(s):  
Spastic Paraplegia ◽  
Atypical Case ◽  
Gm2 Gangliosidoses

MRI abnormalities associated with Vigabatrin treatment – a longitudinal case study and an atypical case

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
T Polster ◽  
C Thiels ◽  
S Axer ◽  
G Classen ◽  
A Hofmann-Peters ◽  
...  
Keyword(s):  
Longitudinal Case Study ◽  
Atypical Case

Hereditary motor and sensory neuropathy type V or complicated form of spastic paraplegia?

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Schöls ◽  
R Schüle ◽  
B Mauko ◽  
M Auer-Grumbach ◽  
L Schöls
Keyword(s):  
Sensory Neuropathy ◽  
Spastic Paraplegia ◽  
Hereditary Motor ◽  
Complicated Form ◽  
Type V ◽  
Motor And Sensory Neuropathy

Gait Patterns in Hereditary Spastic Paraplegia

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Döderlein ◽  
D Metaxiotis ◽  
S Wolf ◽  
F Braatz
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Gait Patterns

SPG10 in German families with hereditary spastic paraplegia

2006 ◽  
Vol 33 (S 1) ◽  
Author(s):  
R. Schüle ◽  
M. Auer-Grumbach ◽  
J. Kassubek ◽  
S. Klimpe ◽  
T. Klopstock ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

An Atypical Case of Renal Mass - A Case Study

2020 ◽  
Vol 15 (2) ◽  
pp. 56-58
Author(s):  
Shafiqur Rahman ◽  
B Ahmed ◽  
ATM Mowladad Chowdhury ◽  
Mirza M Hasan ◽  
Sayedul Islam
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Clinical Diagnosis ◽  
Renal Cell ◽  
Renal Mass ◽  
Clinical Presentation ◽  
Atypical Case ◽  
Renal Tuberculosis

A forty eight year old woman with the clinical diagnosis of renal mass due to renal cell carcinoma was found to have renal tuberculosis. The clinical presentation and management are being discussed. Bangladesh Journal of Urology, Vol. 15, No. 2, July 2012 p.56-58

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