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Showing 1 to 12 of 43 entries
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Muscle diseases.

Journal of clinical neuromuscular disease

Genge A, Shapira AH, Griggs RC.
PMID: 19078567
J Clin Neuromuscul Dis. 1999 Dec;1(2):114. doi: 10.1097/00131402-199912000-00015.

No abstract available.

Mitochondrial contribution to Parkinson's disease pathogenesis.

Parkinson's disease

Schapira AH, Gegg M.
PMID: 21687805
Parkinsons Dis. 2011;2011:159160. doi: 10.4061/2011/159160. Epub 2011 Apr 28.

The identification of the etiologies and pathogenesis of Parkinson's disease (PD) should play an important role in enabling the development of novel treatment strategies to prevent or slow the progression of the disease. The last few years have seen...

Corrigendum to "Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study" [Mol. Genet. Metab. 109 (2013) 221-223].

Molecular genetics and metabolism

McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF, Schapira AHV.
PMID: 28843379
Mol Genet Metab. 2014 Mar;111(3):408. doi: 10.1016/j.ymgme.2013.12.297. Epub 2014 Jan 21.

No abstract available.

Case 262.

Radiology

Schapiro AH, Rattan MS, Moore RA, Dillman JR.
PMID: 30230998
Radiology. 2018 Oct;289(1):263-266. doi: 10.1148/radiol.2018161773.

History A 17-year-old white male adolescent was re-evaluated for a withheld cardiac condition initially detected during prenatal imaging at an outside institution. He had previously experienced intermittent episodes of shortness of breath, chest pain, and palpitations with exertion, but...

British neurology: a national focus.

Journal of neurology, neurosurgery, and psychiatry

Schapira AH, Marsden CD.
PMID: 8089688
J Neurol Neurosurg Psychiatry. 1994 Sep;57(9):1136. doi: 10.1136/jnnp.57.9.1136.
Free PMC Article

No abstract available.

Glucocerebrosidase 1 and leucine-rich repeat kinase 2 in Parkinson disease and interplay between the two genes.

Journal of neurochemistry

Lee CY, Menozzi E, Chau KY, Schapira AHV.
PMID: 34618942
J Neurochem. 2021 Dec;159(5):826-839. doi: 10.1111/jnc.15524. Epub 2021 Oct 16.

The glucocerebrosidase 1 gene (GBA1), bi-allelic variants of which cause Gaucher disease (GD), encodes the lysosomal enzyme glucocerebrosidase (GCase) and is a risk factor for Parkinson Disease (PD). GBA1 variants are linked to a reduction in GCase activity in...

A multinational consensus on dysphagia in Parkinson's disease: screening, diagnosis and prognostic value.

Journal of neurology

Cosentino G, Avenali M, Schindler A, Pizzorni N, Montomoli C, Abbruzzese G, Antonini A, Barbiera F, Benazzo M, Benarroch EE, Bertino G, Cereda E, Clavè P, Cortelli P, Eleopra R, Ferrari C, Hamdy S, Huckabee ML, Lopiano L, Marchese Ragona R, Masiero S, Michou E, Occhini A, Pacchetti C, Pfeiffer RF, Restivo DA, Rondanelli M, Ruoppolo G, Sandrini G, Schapira AHV, Stocchi F, Tolosa E, Valentino F, Zamboni M, Zangaglia R, Zappia M, Tassorelli C, Alfonsi E.
PMID: 34417870
J Neurol. 2021 Aug 21; doi: 10.1007/s00415-021-10739-8. Epub 2021 Aug 21.

BACKGROUND: Parkinson's disease (PD) is a neurodegenerative disorder characterized by a combination of motor and non-motor dysfunction. Dysphagia is a common symptom in PD, though it is still too frequently underdiagnosed. Consensus is lacking on screening, diagnosis, and prognosis...

Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.

Journal of Parkinson's disease

Peterschmitt MJ, Saiki H, Hatano T, Gasser T, Isaacson SH, Gaemers SJM, Minini P, Saubadu S, Sharma J, Walbillic S, Alcalay RN, Cutter G, Hattori N, Höglinger GU, Marek K, Schapira AHV, Scherzer CR, Simuni T, Giladi N, Sardi SP, Fischer TZ.
PMID: 34897099
J Parkinsons Dis. 2021 Dec 10; doi: 10.3233/JPD-212714. Epub 2021 Dec 10.

BACKGROUND: Glucocerebrosidase gene (GBA) mutations influence risk and prognosis of Parkinson's disease (PD), possibly through accumulation of glycosphingolipids, including glucosylceramide (GL-1). Venglustat is a novel, brain penetrant glucosylceramide synthase inhibitor.OBJECTIVE: Evaluate venglustat pharmacology, safety, and tolerability in patients with...

Non-motor features of Parkinson disease.

Nature reviews. Neuroscience

Schapira AHV, Chaudhuri KR, Jenner P.
PMID: 28720825
Nat Rev Neurosci. 2017 Aug;18(8):509. doi: 10.1038/nrn.2017.91. Epub 2017 Jul 13.

This corrects the article DOI: 10.1038/nrn.2017.62.

Bromide intoxication.

Canadian Medical Association journal

Schapira DV.
PMID: 20312755
Can Med Assoc J. 1976 Jul 17;115(2):156.

No abstract available.

Mitochondria in the etiology of Parkinson's disease.

Handbook of clinical neurology

Schapira AH.
PMID: 18808929
Handb Clin Neurol. 2007;83:479-91. doi: 10.1016/S0072-9752(07)83022-3.

No abstract available.

Minimal clinically important difference in Parkinson's disease as assessed in pivotal trials of pramipexole extended release.

Parkinson's disease

Hauser RA, Gordon MF, Mizuno Y, Poewe W, Barone P, Schapira AH, Rascol O, Debieuvre C, Fräßdorf M.
PMID: 24800101
Parkinsons Dis. 2014;2014:467131. doi: 10.1155/2014/467131. Epub 2014 Apr 01.

Background. The minimal clinically important difference (MCID) is the smallest change in an outcome measure that is meaningful for patients. Objectives. To calculate the MCID for Unified Parkinson's Disease Rating Scale (UPDRS) scores in early Parkinson's disease (EPD) and...

Showing 1 to 12 of 43 entries