scholarly journals A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene

2018 ◽  
Vol 36 (1) ◽  
pp. 31-34
Author(s):  
Byeol A Yoon ◽  
Jisun Kim ◽  
Geum Bong Lee ◽  
Jae Woo Kim ◽  
Sang-Myung Cheon
Keyword(s):  
Novel Mutation ◽  
Spastic Paraparesis ◽  
Adult Onset ◽  
Abcd1 Gene

A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD

2020 ◽  
Vol 8 (5) ◽  
pp. 329-331
Author(s):  
Kristine Joyce Porto ◽  
Takashi Matsukawa ◽  
Hiroyuki Ishiura ◽  
Jun Mitsui ◽  
Alexandria Matic ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Abcd1 Gene

scholarly journals Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene

Neurosciences ◽  
2017 ◽  
Vol 22 (4) ◽  
pp. 303-307 ◽  
Author(s):  
Shakya Bhattacharjee ◽  
Nicholas Beauchamp ◽  
Brian Murray ◽  
Timothy Lynch
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Spastic Paraparesis ◽  
Case Series ◽  
Hereditary Spastic Paraparesis

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor

2020 ◽  
Vol 41 (10) ◽  
pp. 2989-2991
Author(s):  
Vittorio Riso ◽  
S. Rossi ◽  
A. Perna ◽  
T. Nicoletti ◽  
L. Bosco ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Dystonic Tremor

Adult-onset spastic paraparesis: An approach to diagnostic work-up

2014 ◽  
Vol 346 (1-2) ◽  
pp. 43-50 ◽  
Author(s):  
Lana Zhovtis Ryerson ◽  
Joseph Herbert ◽  
Jonathan Howard ◽  
Ilya Kister
Keyword(s):  
Spastic Paraparesis ◽  
Adult Onset ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Novel mutation in the SPAST gene in a patient with spastic paraparesis

2007 ◽  
Vol 255 (2) ◽  
pp. 303-304
Author(s):  
M. D. I. Vergouwen ◽  
E. A. Sistermans ◽  
F. Baas ◽  
J. H. Koelman ◽  
M. Visser
Keyword(s):  
Novel Mutation ◽  
Spastic Paraparesis

scholarly journals Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL 11: too late and too rare

2015 ◽  
Vol 3 (6) ◽  
pp. 392-395 ◽  
Author(s):  
Elena Flores Ballester ◽  
Juan José Gil‐Fernández ◽  
Miguel Vázquez Blanco ◽  
José M. Mesa ◽  
Juan Dios García ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Diamond Blackfan Anemia

A novel mutation in the GFAP gene in a familial adult onset Alexander disease

2007 ◽  
Vol 254 (9) ◽  
pp. 1278-1280 ◽  
Author(s):  
Andrea Salmaggi ◽  
Andrea Botturi ◽  
Elena Lamperti ◽  
Marina Grisoli ◽  
Rita Fischetto ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Alexander Disease ◽  
Adult Onset
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