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SpringerLink电子期刊(24)

在“SpringerLink电子期刊”中，命中：24条，耗时：0.0449715 秒

在所有数据库中总计命中：68条

1. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

作者： A. Al-Maawali ; G. Yoon ; A. S. Feigenbaum ; W. C. Halliday ; J. T. R. Clarke…

关键词：Clava ; PLAN/PLA2G6 ; INAD (NBIA2A) ; Atypical INAD (NBIA2B) ; Seitelberger’s disease

刊名：Neuroradiology

出版年：2016

2. Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules

作者： Saara Tikka ; Evanthia Monogioudi ; Athanasios Gotsopoulos…

关键词：Classic infantile NCL ; Laser capture microdissection ; LC ; MSE ; lysosomal storage disorders ; MALDI ; MSI ; PPT1—palmitoyl ; protein thioesterase 1 ; RNA sequence analysis

刊名：NeuroMolecular Medicine

出版年：2016

3. MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

作者：Julia Vodopiutz (1)
Maria T. Schmook (2)
Vassiliki Konstantopoulou (1)
Barbara Plecko (3)
Susanne Greber-Platzer (1)
Marc Creus (4)
Rainer Seidl (1)
Andreas R. Janecke (5) (6)

1. Department of Pediatrics and Adolescent Medicine ; Medical University of Vienna ; W盲hringer G眉rtel 18-20 ; 1090 ; Wien ; Austria
2. Department of Biomedical Imaging and Image-guided Therapy ; Division of Neuroradiology and Musculoskeletal Radiology ; Medical University of Vienna ; Wien ; Austria
3. Division of Neuropediatrics ; University Children鈥檚 Hospital Z眉rich ; Zurich ; Switzerland
4. Department of Chemistry ; University of Basel ; Basel ; Switzerland
5. Department of Pediatrics I ; Innsbruck Medical University ; Innsbruck ; Austria
6. Division of Human Genetics ; Innsbruck Medical University ; Innsbruck ; Austria

关键词：Dystonia ; Infantile neurodegeneration ; Exome sequencing ; Basal ganglia degeneration ; Mediator complex

刊名：European Journal of Pediatrics

出版年：2015

4. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

作者： Nadirah Damseh ; Chris M. Danson ; Motee Al-Ashhab ; Bassam Abu-Libdeh…

关键词：Myoclonic epilepsy ; SNX27 ; Retromer complex

刊名：neurogenetics

出版年：2015

5. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

作者： Fran?ois-Guillaume Debray ; Claudia Stümpfig…

刊名：Journal of Inherited Metabolic Disease

出版年：2015

6. Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography

作者：Janos Groh (8)
David Stadler (8)
Mathias Buttmann (9)
Rudolf Martini (8)

8. Department of Neurology ; Developmental Neurobiology ; University of Wuerzburg ; Josef-Schneider-Str. 11 ; D-97080 ; Wuerzburg ; Germany
9. Department of Neurology ; University of Wuerzburg ; Josef-Schneider-Str. 11 ; D-97080 ; Wuerzburg ; Germany

关键词：Optical coherence tomography ; Neuronal ceroid lipofuscinosis ; Neurodegeneration ; Retinal degeneration ; Lysosomal storage disease

刊名：Acta Neuropathologica Communications

出版年：2014

7. Quantitative T2 Measurements in Juvenile and Late Infantile Neuronal Ceroid Lipofuscinosis

作者：Alvaro Paniagua Bravo MD (1)
N. D. Forkert (2)
A. Schulz MD (3)
U. L?bel MD (1)
J. Fiehler MD (1)
X. Ding MD ; PhD (4)
J. Sedlacik PhD (1)
M. Rosenkranz MD (5)
E. Goebell MD (1)

关键词：Neuronal ceroid lipofuscinosis ; T2 relaxometry ; Neurodegeneration ; CLN2 ; CLN3 ; Quantitative T2 measurement ; Neurodegeneration in children ; Neuronal ceroid lipofuscinosis ; T2 relaxometry ; Neurodegeneration ; CLN2 ; CLN3 ; Quantitative T2 ; Messung ; Neurodegeneration bei Kindern

刊名：Clinical Neuroradiology

出版年：2013

8. Analysis of COQ2 gene in multiple system atrophy

作者： Kotaro Ogaki ; Shinsuke Fujioka ; Michael G Heckman…

关键词：COQ2 ; Multiple system atrophy ; Genetics ; CoQ10 deficiency

刊名：Molecular Neurodegeneration

出版年：2014

9. Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation

作者：Jung Min Ko (1)
Byung Chan Lim (1)
Ki Joong Kim (1)
Yong Seung Hwang (1)
Hye Won Ryu (1)
Jung Ho Lee (1)
Jon Su Kim (1)
Jong-Hee Chae (1) (2)

关键词：Schinzel–Giedion syndrome ; Dysmorphism ; Neurodegeneration ; Epilepsy ; Growth failure

刊名：Child's Nervous System

出版年：2013

10. Disease and patient characteristics in NP-C patients: findings from an international disease registry

作者：Marc C Patterson (1) (8)
Eugen Mengel (2)
Frits A Wijburg (3)
Audrey Muller (4)
Barbara Schwierin (4)
Harir Drevon (5)
Marie T Vanier (6)
Mercé Pineda (7)

关键词：Niemann ; Pick disease type C ; Diagnosis ; Symptoms ; Neurological ; Hepatomegaly ; Splenomegaly ; Cholestasis ; Vertical supranuclear palsy

刊名：Orphanet Journal of Rare Diseases

出版年：2013

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