Works matching AU Pfeffer, Gerald

Results: 51
    1
    2

    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
    3
    4

    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
    5
    6
    7
    8

    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
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28

    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
    29

    CD2AP at the junction of nephropathy and Alzheimer's disease.

    Published in:
    Molecular Neurodegeneration, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13024-025-00852-x
    By:
    • Vandal, Milene;
    • Janmaleki, Mohsen;
    • Rea, Isabel;
    • Gunn, Colin;
    • Hirai, Sotaro;
    • Biernaskie, Jeff;
    • Chun, Justin;
    • Gordon, Grant;
    • Shaw, Andrey;
    • Sanati-Nezhad, Amir;
    • Pfeffer, Gerald;
    • Calon, Frederic;
    • Nguyen, Minh Dang
    Publication type:
    Article
    30
    31
    32
    33

    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
    34
    35

    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
    36
    37

    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
    38

    FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 6, p. 1118, doi. 10.1002/acn3.70016
    By:
    • Cuillerier, Alexanne;
    • Del Gobbo, Giulia F.;
    • Mackay, Layla;
    • Wall, Erika;
    • Couse, Madeline;
    • McDonell, Laura M.;
    • Cloutier, Mireille;
    • Danzi, Matt C.;
    • Warman‐Chardon, Jodi;
    • Bourque, Pierre R.;
    • Suchowersky, Oksana;
    • Mears, Alan;
    • Seldenthuis, Luke;
    • Mears, Wendy;
    • Larrigan, Laura;
    • White‐Brown, Alexandre;
    • Pfeffer, Gerald;
    • Bulman, Dennis E.;
    • Dyment, David;
    • Boycott, Kym M.
    Publication type:
    Article
    39

    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
    40

    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
    41
    42
    43
    44
    45
    46
    47
    48

    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
    49
    50

    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