Works by Pfeffer, Gerald

Results: 47

A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 579, doi. 10.3233/JND-200617
By:
- Slayter, Jeremy;
- Hodgkinson, Victoria;
- Lounsberry, Josh;
- Brais, Bernard;
- Chapman, Kristine;
- Genge, Angela;
- Izenberg, Aaron;
- Johnston, Wendy;
- Lochmüller, Hanns;
- O'Ferrall, Erin;
- Pfeffer, Gerald;
- Plamondon, Stephanie;
- Rodrigue, Xavier;
- Schellenberg, Kerri;
- Shoesmith, Christen;
- Stables, Christine;
- Taillon, Monique;
- Warman-Chardon, Jodi;
- Korngut, Lawrence;
- O'Connell, Colleen
Publication type:
Article
Diagnosis and treatment of mitochondrial myopathies.
Published in:
Annals of Medicine, 2013, v. 45, n. 1, p. 4, doi. 10.3109/07853890.2011.605389
By:
- Pfeffer, Gerald;
- Chinnery, Patrick F.
Publication type:
Article
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
Published in:
Genes, 2022, v. 13, n. 6, p. 963, doi. 10.3390/genes13060963
By:
- Pfeffer, Gerald;
- Lee, Grace;
- Pontifex, Carly S.;
- Fanganiello, Roberto D.;
- Peck, Allison;
- Weihl, Conrad C.;
- Kimonis, Virginia
Publication type:
Article
Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data.
Published in:
Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00553
By:
- Gupta, Mehul;
- Nikolic, Ana;
- Ng, Denise;
- Martens, Kristina;
- Ebadi, Hamid;
- Chhibber, Sameer;
- Pfeffer, Gerald
Publication type:
Article
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.
Published in:
Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00942
By:
- Soule, Tyler;
- Phan, Cecile;
- White, Chris;
- Resch, Lothar;
- Lacson, Atilano;
- Martens, Kristina;
- Pfeffer, Gerald
Publication type:
Article
Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.
Published in:
Muscle & Nerve, 2012, v. 46, n. 4, p. 593, doi. 10.1002/mus.23538
By:
- Pfeffer, Gerald;
- Mezei, Michelle M.
Publication type:
Article
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.
Published in:
JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
By:
- Gorman, Gráinne S.;
- Pfeffer, Gerald;
- Griffin, Helen;
- Blakely, Emma L.;
- Kurzawa-Akanbi, Marzena;
- Gabriel, Jessica;
- Sitarz, Kamil;
- Roberts, Mark;
- Schoser, Benedikt;
- Pyle, Angela;
- Schaefer, Andrew M.;
- McFarland, Robert;
- Turnbull, Douglass M.;
- Horvath, Rita;
- Chinnery, Patrick F.;
- Taylor, Robert W.
Publication type:
Article
A new automated tool to quantify nucleoid distribution within mitochondrial networks.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01987-9
By:
- Ilamathi, Hema Saranya;
- Ouellet, Mathieu;
- Sabouny, Rasha;
- Desrochers-Goyette, Justine;
- Lines, Matthew A.;
- Pfeffer, Gerald;
- Shutt, Timothy E.;
- Germain, Marc
Publication type:
Article
Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
Published in:
Biology (2079-7737), 2021, v. 10, n. 4, p. 268, doi. 10.3390/biology10040268
By:
- Sharma, Govinda;
- Pfeffer, Gerald;
- Shutt, Timothy E.
Publication type:
Article
Respiratory management of patients with neuromuscular disease: current perspectives.
Published in:
Degenerative Neurological & Neuromuscular Disease, 2016, v. 6, p. 111, doi. 10.2147/DNND.S87323
By:
- Pfeffer, Gerald;
- Povitz, Marcus
Publication type:
Article
Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1064008
By:
- Orton, Sarah M.;
- Sangha, Amarpreet;
- Gupta, Mehul;
- Martens, Kristina;
- Metz, Luanne M.;
- de Koning, A. P. J.;
- Pfeffer, Gerald
Publication type:
Article
Neuromuscular Complications of SARS-CoV-2 and Other Viral Infections.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.914411
By:
- Jacob, Sarah;
- Kapadia, Ronak;
- Soule, Tyler;
- Luo, Honglin;
- Schellenberg, Kerri L.;
- Douville, Renée N.;
- Pfeffer, Gerald
Publication type:
Article
Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 12, p. 4026, doi. 10.1093/brain/awae288
By:
- Sharkey, Rachel J;
- Cortese, Filomeno;
- Goodyear, Bradley G;
- Korngut, Lawrence W;
- Jacob, Sarah M;
- Sharkey, Keith A;
- Kalra, Sanjay;
- Nguyen, Minh Dang;
- Frayne, Richard;
- Pfeffer, Gerald
Publication type:
Article
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. e43, doi. 10.1093/brain/awae052
By:
- Lamont, Ryan;
- King, Malcolm;
- King, Alexandra;
- Schellenberg, Kerri;
- Pfeffer, Gerald
Publication type:
Article
Emerging therapies for mitochondrial disorders.
Published in:
2016
By:
- Nightingale, Helen;
- Pfeffer, Gerald;
- Bargiela, David;
- Horvath, Rita;
- Chinnery, Patrick F
Publication type:
journal article
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5633, doi. 10.3390/ijms25115633
By:
- Pontifex, Carly S.;
- Zaman, Mashiat;
- Fanganiello, Roberto D.;
- Shutt, Timothy E.;
- Pfeffer, Gerald
Publication type:
Article
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8327, doi. 10.3390/ijms21218327
By:
- Zhao, Tian;
- Goedhart, Caitlin;
- Pfeffer, Gerald;
- Greenway, Steven C;
- Lines, Matthew;
- Khan, Aneal;
- Innes, A Micheil;
- Shutt, Timothy E
Publication type:
Article
Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.
Published in:
Canadian Journal of Neurological Sciences, 2024, v. 51, n. 4, p. 595, doi. 10.1017/cjn.2023.277
By:
- Jewett, Gordon;
- Beland, Benjamin;
- Khayambashi, Shahin;
- Silverstein, Sarah;
- Donkervoort, Sandra;
- Bönnemann, Carsten G.;
- Pfeffer, Gerald;
- Chhibber, Sameer
Publication type:
Article
New SOD1 Mutation Causing Rapid Amyotrophic Lateral Sclerosis with Nerve Root Enhancement.
Published in:
Canadian Journal of Neurological Sciences, 2023, v. 50, n. 6, p. 932, doi. 10.1017/cjn.2022.311
By:
- Perera, Tefani;
- Bencsik, Caralyn;
- Pfeffer, Gerald;
- Mobach, Theodore
Publication type:
Article
Response to Provincial Governments' Decisions Regarding Monitoring for Adults with Spinal Muscular Atrophy.
Published in:
Canadian Journal of Neurological Sciences, 2021, v. 48, n. 2, p. 201, doi. 10.1017/cjn.2020.161
By:
- Hodgkinson, Victoria L.;
- Chapman, Kristine;
- Izenberg, Aaron;
- Lochmüller, Hanns;
- O'Connell, Colleen;
- O'Ferrall, Erin K.;
- Oskoui, Maryam;
- Pfeffer, Gerald;
- Plamondon, Stephanie;
- Rodrigue, Xavier;
- Shoesmith, Christen;
- Warman-Chardon, Jodi;
- Brais, Bernard;
- Korngut, Lawrence;
- Schellenberg, Kerri
Publication type:
Article
Fentanyl Overdose Causing Hippocampal Ischaemia Followed by Delayed Leukoencephalopathy.
Published in:
Canadian Journal of Neurological Sciences, 2020, v. 47, n. 3, p. 398, doi. 10.1017/cjn.2020.33
By:
- Switzer, Aaron R.;
- Beland, Benjamin;
- Sarna, Justyna R.;
- Walzak, Alison;
- Pfeffer, Gerald
Publication type:
Article
Titinopathy in a Canadian Family Sharing the British Founder Haplotype.
Published in:
2014
By:
- Pfeffer, Gerald;
- Joseph, Jeffrey T.;
- Innes, A. Micheil;
- Frizzell, J. Bevan;
- Wilson, Ian J.;
- Brownell, A. Keith W.;
- Chinnery, Patrick F.
Publication type:
Case Study
Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia.
Published in:
Canadian Journal of Neurological Sciences, 2012, v. 39, n. 4, p. 520, doi. 10.1017/S0317167100014062
By:
- Pfeffer, Gerald;
- Waters, Paula J.;
- Maguire, John;
- Vallance, Hilary D.;
- Wong, V. A.;
- Mezei, Michelle M.
Publication type:
Article
Stroke in Young Women.
Published in:
Canadian Journal of Neurological Sciences, 2011, v. 38, n. 3, p. 404, doi. 10.1017/S0317167100011781
By:
- Salisbury, Meredith;
- Pfeffer, Gerald;
- Yip, Samuel
Publication type:
Article
Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia.
Published in:
Canadian Journal of Neurological Sciences, 2011, v. 38, n. 1, p. 119, doi. 10.1017/S031716710001115X
By:
- Pfeffer, Gerald;
- Sirrs, Sandra;
- Wade, N. Kevin;
- Mezei, Michelle M.
Publication type:
Article
Restricted Diffusion and Poor Clinical Outcome in Cerebral Fat Embolism Syndrome.
Published in:
2010
By:
- Pfeffer, Gerald;
- Heran, Manraj K. S.
Publication type:
Case Study
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.815210
By:
- Maroilley, Tatiana;
- Wright, Nicola A. M.;
- Diao, Catherine;
- MacLaren, Linda;
- Pfeffer, Gerald;
- Sarna, Justyna R.;
- Billie Au, Ping Yee;
- Tarailo-Graovac, Maja
Publication type:
Article
Association Between BDNF Val66Met Polymorphism and Mild Behavioral Impairment in Patients With Parkinson's Disease.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.587992
By:
- Ramezani, Mehrafarin;
- Ruskey, Jennifer A.;
- Martens, Kristina;
- Kibreab, Mekale;
- Javer, Zainul;
- Kathol, Iris;
- Hammer, Tracy;
- Cheetham, Jenelle;
- Leveille, Etienne;
- Martino, Davide;
- Sarna, Justyna R.;
- Gan-Or, Ziv;
- Pfeffer, Gerald;
- Ismail, Zahinoor;
- Monchi, Oury
Publication type:
Article
Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.604547
By:
- Martens, Kristina;
- Leckie, Jamie;
- Fok, Daniel;
- Wells, Robyn A.;
- Chhibber, Sameer;
- Pfeffer, Gerald
Publication type:
Article
Systematic review of the clinical spectrum of CASPR2 antibody syndrome.
Published in:
2020
By:
- Boyko, Matthew;
- Au, Ka Loong Kelvin;
- Casault, Colin;
- de Robles, Paula;
- Pfeffer, Gerald
Publication type:
Literature Review
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
Published in:
2016
By:
- Guthrie, Grant;
- Pfeffer, Gerald;
- Bailie, Maura;
- Bradshaw, Karen;
- Browning, Andrew;
- Horvath, Rita;
- Chinnery, Patrick;
- Yu-Wai-Man, Patrick
Publication type:
Erratum
Diagnosis of muscle diseases presenting with early respiratory failure.
Published in:
Journal of Neurology, 2015, v. 262, n. 5, p. 1101, doi. 10.1007/s00415-014-7526-1
By:
- Pfeffer, Gerald;
- Povitz, Marcus;
- Gibson, G.;
- Chinnery, Patrick
Publication type:
Article
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
Published in:
2013
By:
- Guthrie, Grant;
- Pfeffer, Gerald;
- Bailie, Maura;
- Bradshaw, Karen;
- Browning, Andrew;
- Horvath, Rita;
- Chinnery, Patrick;
- Yu-Wai-Man, Patrick
Publication type:
Letter
Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation.
Published in:
eLife, 2025, p. 1, doi. 10.7554/eLife.100541
By:
- Baron, Kelsey R.;
- Oviedo, Samantha;
- Krasny, Sophia;
- Zaman, Mashiat;
- Aldakhlallah, Rama;
- Bora, Prerona;
- Mathur, Prakhyat;
- Pfeffer, Gerald;
- Bollong, Michael J.;
- Shutt, Timothy E.;
- Grotjahn, Danielle A.;
- Wiseman, R. Luke
Publication type:
Article
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
Published in:
2022
By:
- Korb, Manisha;
- Peck, Allison;
- Alfano, Lindsay N.;
- Berger, Kenneth I.;
- James, Meredith K.;
- Ghoshal, Nupur;
- Healzer, Elise;
- Henchcliffe, Claire;
- Khan, Shaida;
- Mammen, Pradeep P. A.;
- Patel, Sujata;
- Pfeffer, Gerald;
- Ralston, Stuart H.;
- Roy, Bhaskar;
- Seeley, William W.;
- Swenson, Andrea;
- Mozaffar, Tahseen;
- Weihl, Conrad;
- Kimonis, Virginia;
- the VCP Standards of Care Working Group
Publication type:
journal article
Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy.
Published in:
Journal of the American Heart Association, 2023, v. 12, n. 21, p. 1, doi. 10.1161/JAHA.123.030229
By:
- Kashyap, Niharika;
- Nikhanj, Anish;
- Labib, Dina;
- Prosia, Easter;
- Rivest, Sandra;
- Flewitt, Jacqueline;
- Pfeffer, Gerald;
- Bakal, Jeffrey A.;
- Siddiqi, Zaeem A.;
- Coulden, Richard A.;
- Thompson, Richard;
- White, James A.;
- Oudit, Gavin Y.
Publication type:
Article
Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson's disease using machine learning.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84316-4
By:
- Ramezani, Mehrafarin;
- Mouches, Pauline;
- Yoon, Eunjin;
- Rajashekar, Deepthi;
- Ruskey, Jennifer A.;
- Leveille, Etienne;
- Martens, Kristina;
- Kibreab, Mekale;
- Hammer, Tracy;
- Kathol, Iris;
- Maarouf, Nadia;
- Sarna, Justyna;
- Martino, Davide;
- Pfeffer, Gerald;
- Gan-Or, Ziv;
- Forkert, Nils D.;
- Monchi, Oury
Publication type:
Article
Myopathy With SQSTM1 and TIA1 Variants: clinical and Pathological Features.
Published in:
Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00147
By:
- Niu, Zhiyv;
- Pontifex, Carly Sabine;
- Berini, Sarah;
- Hamilton, Leslie E.;
- Naddaf, Elie;
- Wieben, Eric;
- Aleff, Ross A.;
- Martens, Kristina;
- Gruber, Angela;
- Engel, Andrew G.;
- Pfeffer, Gerald;
- Milone, Margherita
Publication type:
Article
The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update.
Published in:
Nutrients, 2023, v. 15, n. 13, p. 2978, doi. 10.3390/nu15132978
By:
- Sangha, Amarpreet;
- Quon, Michaela;
- Pfeffer, Gerald;
- Orton, Sarah-Michelle
Publication type:
Article
High diagnostic yield and novel variants in very late-onset spasticity.
Published in:
Journal of Neurogenetics, 2019, v. 33, n. 1, p. 27, doi. 10.1080/01677063.2019.1566326
By:
- Almomen, Momen;
- Martens, Kristina;
- Quadir, Asfia;
- Pontifex, Carly Sabine;
- Hanson, Alexandra;
- Korngut, Lawrence;
- Pfeffer, Gerald
Publication type:
Article
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 686, doi. 10.1002/acn3.51760
By:
- Roy, Bhaskar;
- Peck, Allison;
- Evangelista, Teresinha;
- Pfeffer, Gerald;
- Wang, Leo;
- Diaz‐Manera, Jordi;
- Korb, Manisha;
- Wicklund, Matthew P.;
- Milone, Margherita;
- Freimer, Miriam;
- Kushlaf, Hani;
- Villar‐Quiles, Rocio‐Nur;
- Stojkovic, Tanya;
- Needham, Merrilee;
- Palmio, Johanna;
- Lloyd, Thomas E.;
- Keung, Benison;
- Mozaffar, Tahseen;
- Weihl, Conrad Chris;
- Kimonis, Virginia
Publication type:
Article
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Published in:
Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348
By:
- Pyle, Angela;
- Smertenko, Tania;
- Bargiela, David;
- Griffin, Helen;
- Duff, Jennifer;
- Appleton, Marie;
- Douroudis, Konstantinos;
- Pfeffer, Gerald;
- Santibanez-Koref, Mauro;
- Eglon, Gail;
- Yu-Wai-Man, Patrick;
- Ramesh, Venkateswaran;
- Horvath, Rita;
- Chinnery, Patrick F.
Publication type:
Article
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. e280, doi. 10.1093/brain/awu034
By:
- Pfeffer, Gerald;
- Chinnery, Patrick F.
Publication type:
Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
By:
- Pfeffer, Gerald;
- Gorman, Gráinne S;
- Griffin, Helen;
- Kurzawa-Akanbi, Marzena;
- Blakely, Emma L.;
- Wilson, Ian;
- Sitarz, Kamil;
- Moore, David;
- Murphy, Julie L.;
- Alston, Charlotte L.;
- Pyle, Angela;
- Coxhead, Jon;
- Payne, Brendan;
- Gorrie, George H.;
- Longman, Cheryl;
- Hadjivassiliou, Marios;
- McConville, John;
- Dick, David;
- Imam, Ibrahim;
- Hilton, David
Publication type:
Article
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e271, doi. 10.1093/brain/awt306
By:
- Pfeffer, Gerald;
- Griffin, Helen;
- Pyle, Angela;
- Horvath, Rita;
- Chinnery, Patrick F.
Publication type:
Article
Titin mutation segregates with hereditary myopathy with early respiratory failure.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1695, doi. 10.1093/brain/aws102
By:
- Pfeffer, Gerald;
- Elliott, Hannah R.;
- Griffin, Helen;
- Barresi, Rita;
- Miller, James;
- Marsh, Julie;
- Evilä, Anni;
- Vihola, Anna;
- Hackman, Peter;
- Straub, Volker;
- Dick, David J.;
- Horvath, Rita;
- Santibanez-Koref, Mauro;
- Udd, Bjarne;
- Chinnery, Patrick F.
Publication type:
Article
Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 6, p. 1768, doi. 10.1111/epi.17980
By:
- Klein, Karl Martin;
- Mascarenhas, Rumika;
- Merrikh, Daria;
- Khanbabaei, Maryam;
- Maroilley, Tatiana;
- Kaur, Navprabhjot;
- Liu, Yiping;
- Soule, Tyler;
- Manalo, Minette;
- Tamura, Goichiro;
- Jacobs, Julia;
- Hader, Walter;
- Pfeffer, Gerald;
- Tarailo‐Graovac, Maja
Publication type:
Article