Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Laurence Gauquelin"'
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
No abstract necessary for Letters.
Externí odkaz:
https://doaj.org/article/bb72cb293daf4b9e86a87b0e9c73fbb5
Publikováno v:
Am J Med Genet A
A recent report by Majethia and Girisha described a patient with biallelic pathogenic variants in POLR3A and Wiedemann-Rautenstrauch syndrome. In this correspondence, we compare the features of this patient to that of a cohort of patients with severe
Publikováno v:
Neurology. 94:631-634
Heterozygous pathogenic variants in CACNA1A are associated with 3 classic phenotypes, with variable expression and significant overlap: familial hemiplegic migraine 1, spinocerebellar ataxia 6, and episodic ataxia type 2.
Autor:
David A. Dyment, Kym M. Boycott, Bernard Brais, Laurence Gauquelin, Sohnee Ahmed, Jacek Majewski, Mark A. Tarnopolsky, Allan Micheil Innes, Martine Tétreault, Samantha K Rojas, Guy A. Rouleau, Francois P. Bernier, Karine Choquet, Michael T. Geraghty, Oksana Suchowersky, Grace Yoon, Taila Hartley
Publikováno v:
Mov Disord Clin Pract
Background Cerebellar atrophy is a nonspecific imaging finding observed in a number of neurological disorders. Genetic ataxias associated with cerebellar atrophy are a heterogeneous group of conditions, rendering the approach to diagnosis challenging
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Autor:
David Mowat, Sandra Donkervoort, Dimah Saade, Timothy E. Shutt, R. Hanson, Volker Straub, J.S. Parboosingh, Alessandra Carnevale, Francois P. Bernier, Pomi Yun, Rupleen Kaur, Beryl B. Cummings, I. Al Khatib, Carol J Saunders, Amy Harper, Peter I. Karachunski, Laurence Gauquelin, Leigh B. Waddell, Michelle A. Farrar, A.M. Innes, Rasha Sabouny, Asif Javed, Isabelle Thiffault, Ana Töpf, Sophelia H. S. Chan, Steven A. Moore, Katherine R. Chao, Nanna Witting, M. Leach, Jean K. Mah, C. Thompson, Rhonda E. Schnur, Joline C. Dalton, Carsten G. Bönnemann, Julia K. Goodrich, Keith A. Coffman, Prech Uapinyoying, Ryan E. Lamont, Sabine Specht, L. Medne, Grace Yoon, A. Reghan Foley, Kym M. Boycott, Payam Mohassel, John Vissing, Hilary E. Racher, Ying Hu, M. Hainlen
Publikováno v:
Care4Rare Canada Consortium 2019, ' MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement ', Acta Neuropathologica, vol. 138, no. 6, pp. 1013-1031 . https://doi.org/10.1007/s00401-019-02059-z
Acta Neuropathologica
Acta Neuropathologica
MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype–phenotype spectrum remains to be explored, pathogenic variants in MSTO1 have recently been reported in a small number of patients presenting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4dcb898e43a5a52e65551664c6d248
https://curis.ku.dk/portal/da/publications/msto1-mutations-cause-mtdna-depletion-manifesting-as-muscular-dystrophy-with-cerebellar-involvement(e62e468c-64e0-48f8-b30c-3ccddf0547bb).html
https://curis.ku.dk/portal/da/publications/msto1-mutations-cause-mtdna-depletion-manifesting-as-muscular-dystrophy-with-cerebellar-involvement(e62e468c-64e0-48f8-b30c-3ccddf0547bb).html
Autor:
Deborah L. Renaud, Emma Glamuzina, Catherine Fallet-Bianco, Bader Alhaddad, Laurence Gauquelin, Mackenzie A. Michell-Robinson, Kether Guerrero, Tobias B. Haack, Norberto Rodriguez-Espinosa, Geneviève Bernard, Ingrid Tejera-Martin, Kevin Petrecca, S. Leiz, Michael Saito, Fernando I. Monton, Savithri Nageswaran, Daniela Pohl, Annette Grefe, Luan T. Tran, Seth Cohen, Megan K. Dishop, Stefanie Perrier, Lama Darbelli, Myriam Srour
Publikováno v:
Neurology: Genetics
ObjectiveTo expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.MethodsWe performed an international cross-sectional study
Autor:
Bernard Brais, Geneviève Bernard, Laurence Gauquelin, Mark A. Tarnopolsky, Nicole I. Wolf, Neil A. Miller, Martine Tétreault, Guy A. Rouleau, Jacek Majewski, Nicolas Dupré, Eric Bareke, Emily G. Farrow, Isabelle Thiffault, Grace Yoon, Oksana Suchowersky, Ziv Gan-Or, Byunggil Yoo
Publikováno v:
Brain, 141. Oxford University Press
Gauquelin, L, Tetreault, M, Thiffault, I, Farrow, E, Miller, N, Yoo, B, Bareke, E, Yoon, G, Suchowersky, O, Dupre, N, Tarnopolsky, M, Brais, B, Wolf, N I, Majewski, J, Rouleau, G A, Gan-Or, Z & Bernard, G 2018, ' POLR3A variants in hereditary spastic paraplegia and ataxia ', Brain, vol. 141 . https://doi.org/10.1093/brain/awx290
Gauquelin, L, Tetreault, M, Thiffault, I, Farrow, E, Miller, N, Yoo, B, Bareke, E, Yoon, G, Suchowersky, O, Dupre, N, Tarnopolsky, M, Brais, B, Wolf, N I, Majewski, J, Rouleau, G A, Gan-Or, Z & Bernard, G 2018, ' POLR3A variants in hereditary spastic paraplegia and ataxia ', Brain, vol. 141 . https://doi.org/10.1093/brain/awx290
Publikováno v:
Child Neurology Open
Child Neurology Open, Vol 4 (2017)
Child Neurology Open, Vol 4 (2017)
Nonparaneoplastic opsoclonus–myoclonus ataxia syndrome is a rare neuroinflammatory condition featured by opsoclonus, myoclonus, ataxia, and cognitive behavioral disturbance. The authors report an observation of enterovirus 71-associated opsoclonus
Autor:
Taila Hartley, Mark A. Tarnopolsky, Francois P. Bernier, Jacek Majewski, Michael T. Geraghty, Martine Tétreault, Laurence Gauquelin, Guy A. Rouleau, Allan Micheil Innes, Samantha K Rojas, Sohnee Ahmed, Oksana Suchowersky, Bernard Brais, Grace Yoon, David A. Dyment, Kym M. Boycott
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S11
Background: Cerebellar atrophy is characterized by loss of cerebellar tissue, with evidence on brain imaging of enlarged interfolial spaces compared to the foliae. Genetic ataxias associated with cerebellar atrophy are a heterogeneous group of disord