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About 88 results

ALLMedicine™ Adult Polyglucosan Body Disease Center

Research & Reviews  30 results

Abundant co-pathologies of polyglucosan bodies, frontotemporal lobar degeneration with ...
https://doi.org/10.1111/nan.12865
Neuropathology and Applied Neurobiology; Uemura MT, Suh ER et. al.

Dec 2nd, 2022 - Adult polyglucosan body disease (APBD) is a progressive neurogenetic disorder caused by 1,4-alpha-glucan branching enzyme 1 (GBE1) mutation with an accumulation of polyglucosan bodies (PBs) in the central and peripheral nervous systems as a pathol...

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294094
Neurotherapeutics : the Journal of the American Society F... Gumusgoz E, Kasiri S et. al.

Mar 30th, 2022 - Adult polyglucosan body disease (APBD) and Lafora disease (LD) are autosomal recessive glycogen storage neurological disorders. APBD is caused by mutations in the glycogen branching enzyme (GBE1) gene and is characterized by progressive upper and ...

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9612801
Brain : a Journal of Neurology; Nitschke S, Sullivan MA et. al.

Jan 28th, 2022 - Longer glucan chains tend to precipitate. Glycogen, by far the largest mammalian glucan and the largest molecule in the cytosol with up to 55 000 glucoses, does not, due to a highly regularly branched spherical structure that allows it to be perfu...

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522445
Journal of Neurology, Neurosurgery, and Psychiatry; Grunseich C, Sarkar N et. al.

Jun 10th, 2021 - We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres. WES was performed on 66 individuals...

Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8423949
Neurotherapeutics : the Journal of the American Society F... Gumusgoz E, Guisso DR et. al.

Apr 9th, 2021 - Many adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9 biotechnology holds great promise in neurological therapy, pending the clearance of major delivery, efficiency, and specificity hurdles. We applied CRISPR/Cas9 g...

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Clinicaltrials.gov  1 results

Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
https://clinicaltrials.gov/ct2/show/NCT00947960

Mar 5th, 2018 - Adult polyglucosan disease is a progressive neurogenetic disorder characterized by neurogenic bladder, progressive difficulty with walking, and sensory abnormalities in the lower extremities which typically present in the 4th or 5th decade of life...

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News  4 results

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/familymedicine/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps
Neurology Reviews;

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/neurology/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

NORD to Develop Natural History Studies With 20 Rare Disease Patient Organizations
https://www.mdedge.com/clinicianreviews/article/108851/nord-develop-natural-history-studies-20-rare-disease-patient

May 13th, 2016 - The National Organization for Rare Disorders (NORD) will develop longitudinal natural history studies with 20 rare disease patient organizations to advance understanding of rare diseases and support research. The project is supported in part by a.

Study Documents Misdiagnosis of Adult Polyglucosan Body Disease (APBD)
https://www.mdedge.com/neurology/article/103690/rare-diseases/study-documents-misdiagnosis-adult-polyglucosan-body-disease

Oct 20th, 2015 - APBD is a genetic disorder that is frequently misdiagnosed as ALS, MS, and other neurological conditions. Early symptoms usually include bladder dysfunction and gait problems.

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