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Journal of Inherited Metabolic Disease|September 21, 2011
Hippocampal atrophy as a surrogate of neuronal involvement in Fabry diseaseAndreas Fellgiebel, Dominik O Wolf, Edwin Kolodny, et al.Journal of Inherited Metabolic Disease|January 20, 2010
Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes SubregistryAnna Tylki-Szymańska, Ashok Vellodi, Amal El-Beshlawy, et al.Pediatric Neurology|March 25, 2008
Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmusAlex R Paciorkowski, Swati Sathe, Bei-Jin Zeng, et al.Journal of the Neurological Sciences|December 1, 2009
Head trauma can initiate the onset of adreno-leukodystrophyGerald V Raymond, Roberta Seidman, Teshamae S Monteith, et al.Human Mutation|November 16, 2005
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytesGrace M Hobson, Zhong Huang, Karen Sperle, et al.Blood Cells, Molecules & Diseases|November 12, 2010
The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher RegistryBarry Rosenbloom, Manisha Balwani, Jeff M Bronstein, et al.Human Mutation|July 29, 2011
A mutation in SCARB2 is a modifier in Gaucher diseaseArash Velayati, John DePaolo, Nidhi Gupta, et al.Journal of Neural Transmission (Vienna, Austria : 1996)|June 11, 2013
Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "Stroke in Young Fabry Patients (SIFAP1) study"Peter Kropp, Martin Holzhausen, Edwin Kolodny, et al.BMC Neurology|March 11, 2014
Lessons from everyday stroke care for clinical research and vice versa: comparison of a comprehensive and a research population of young stroke patientsChristian Tanislav, Ulrike Grittner, Bjoern Misselwitz, et al.Annals of Neurology|January 27, 2006
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathyMichael E Shy, Mena T Scavina, Alisa Clark, et al.Pageof 2