Pfeffer G - Search Results

1

Diagnosis and treatment of mitochondrial myopathies.

Pfeffer G, Chinnery PF. Pfeffer G, et al. Ann Med. 2013 Feb;45(1):4-16. doi: 10.3109/07853890.2011.605389. Epub 2011 Aug 25. Ann Med. 2013. PMID: 21867371 Free PMC article. Review.

2

Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy.

Boock V, Roy B, Pfeffer G, Kimonis V. Boock V, et al. Among authors: pfeffer g. Curr Opin Neurol. 2023 Oct 1;36(5):432-440. doi: 10.1097/WCO.0000000000001184. Epub 2023 Aug 30. Curr Opin Neurol. 2023. PMID: 37678339 Review.

3

Primary lateral sclerosis.

Marzoughi S, Pfeffer G, Cashman N. Marzoughi S, et al. Among authors: pfeffer g. Handb Clin Neurol. 2023;196:89-99. doi: 10.1016/B978-0-323-98817-9.00021-1. Handb Clin Neurol. 2023. PMID: 37620095 Review.

4

The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update.

Sangha A, Quon M, Pfeffer G, Orton SM. Sangha A, et al. Among authors: pfeffer g. Nutrients. 2023 Jun 30;15(13):2978. doi: 10.3390/nu15132978. Nutrients. 2023. PMID: 37447304 Free PMC article. Review.

5

Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy.

Kashyap N, Nikhanj A, Labib D, Prosia E, Rivest S, Flewitt J, Pfeffer G, Bakal JA, Siddiqi ZA, Coulden RA, Thompson R, White JA, Oudit GY. Kashyap N, et al. Among authors: pfeffer g. J Am Heart Assoc. 2023 Nov 7;12(21):e030229. doi: 10.1161/JAHA.123.030229. Epub 2023 Nov 6. J Am Heart Assoc. 2023. PMID: 37929714 Free PMC article.

6

New SOD1 Mutation Causing Rapid Amyotrophic Lateral Sclerosis with Nerve Root Enhancement.

Perera T, Bencsik C, Pfeffer G, Mobach T. Perera T, et al. Among authors: pfeffer g. Can J Neurol Sci. 2023 Nov;50(6):932-934. doi: 10.1017/cjn.2022.311. Epub 2022 Nov 2. Can J Neurol Sci. 2023. PMID: 36321541 No abstract available.

7

A protocol for single nucleus RNA-seq from frozen skeletal muscle.

Soule TG, Pontifex CS, Rosin N, Joel MM, Lee S, Nguyen MD, Chhibber S, Pfeffer G. Soule TG, et al. Among authors: pfeffer g. Life Sci Alliance. 2023 Mar 13;6(5):e202201806. doi: 10.26508/lsa.202201806. Print 2023 May. Life Sci Alliance. 2023. PMID: 36914268 Free PMC article.

8

Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis.

Orton SM, Sangha A, Gupta M, Martens K, Metz LM, de Koning APJ, Pfeffer G. Orton SM, et al. Among authors: pfeffer g. Front Neurol. 2022 Dec 28;13:1064008. doi: 10.3389/fneur.2022.1064008. eCollection 2022. Front Neurol. 2022. PMID: 36644209 Free PMC article.

9

Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.

Jewett G, Beland B, Khayambashi S, Silverstein S, Donkervoort S, Bönnemann CG, Pfeffer G, Chhibber S. Jewett G, et al. Among authors: pfeffer g. Can J Neurol Sci. 2023 Sep 8:1-3. doi: 10.1017/cjn.2023.277. Online ahead of print. Can J Neurol Sci. 2023. PMID: 37681231 No abstract available.

10

Treatment for mitochondrial disorders.

Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Pfeffer G, et al. Cochrane Database Syst Rev. 2012 Apr 18;2012(4):CD004426. doi: 10.1002/14651858.CD004426.pub3. Cochrane Database Syst Rev. 2012. PMID: 22513923 Free PMC article. Review.

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