Handwriting impairment in a case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a novel mutation in the CSF1R gene

2022 ◽  
Author(s):  
Ming-Chen Tsai ◽  
Yueh-Feng Sung
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Axonal Spheroids

scholarly journals Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report

2019 ◽  
Vol 14 (4) ◽  
pp. 514-517 ◽  
Author(s):  
Seongsu Kang ◽  
Da Mi Kim ◽  
In Ho Lee ◽  
Chang June Song
Keyword(s):  
Case Report ◽  
Adult Onset ◽  
Axonal Spheroids

Evaluation of CSF1R‐related adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria

2021 ◽  
Author(s):  
X Ayrignac ◽  
C Carra Dallière ◽  
P Codjia ◽  
K Mouzat ◽  
G Castelnovo ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Adult Onset ◽  
Axonal Spheroids

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

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Neurology ◽  
2018 ◽  
Vol 91 (16) ◽  
pp. 755-757 ◽  
Author(s):  
Stefanie N. Hayer ◽  
Ilona Krey ◽  
Christian Barro ◽  
Franziska Rössler ◽  
Peter Körtvelyessy ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

Sporadic Japanese case of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R

2020 ◽  
Vol 8 (2) ◽  
pp. 96-98
Author(s):  
Kensuke Senzaki ◽  
Shiroh Miura ◽  
Masayuki Ochi ◽  
Takeaki Katoh ◽  
Yoko Okada ◽  
...  
Keyword(s):  
De Novo ◽  
Adult Onset ◽  
Axonal Spheroids ◽  
Japanese Case

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

scholarly journals Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

2016 ◽  
Vol 38 (1) ◽  
pp. 77-83 ◽  
Author(s):  
T. Konno ◽  
D.F. Broderick ◽  
N. Mezaki ◽  
A. Isami ◽  
D. Kaneda ◽  
...  
Keyword(s):  
Diagnostic Value ◽  
Adult Onset ◽  
Axonal Spheroids

scholarly journals Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Nicola Foulds ◽  
Reuben J. Pengelly ◽  
Simon R. Hammans ◽  
James A. R. Nicoll ◽  
David W. Ellison ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

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
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