Search Results - "Laurent, Sandra B."

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia by Gan-Or, Ziv, Bouslam, Naima, Birouk, Nazha, Lissouba, Alexandra, Chambers, Daniel B., Vérièpe, Julie, Androschuk, Alaura, Laurent, Sandra B., Rochefort, Daniel, Spiegelman, Dan, Dionne-Laporte, Alexandre, Szuto, Anna, Liao, Meijiang, Figlewicz, Denise A., Bouhouche, Ahmed, Benomar, Ali, Yahyaoui, Mohamed, Ouazzani, Reda, Yoon, Grace, Dupré, Nicolas, Suchowersky, Oksana, Bolduc, Francois V., Parker, J. Alex, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A., Ouled Amar Bencheikh, Bouchra

“…Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or…”
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Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis by Leblond, Claire S, Gan-Or, Ziv, Spiegelman, Dan, Laurent, Sandra B, Szuto, Anna, Hodgkinson, Alan, Dionne-Laporte, Alexandre, Provencher, Pierre, de Carvalho, Mamede, Orrù, Sandro, Brunet, Denis, Bouchard, Jean-Pierre, Awadalla, Philip, Dupré, Nicolas, Dion, Patrick A, Rouleau, Guy A

“…Abstract Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by an extensive loss of motor neurons in the primary…”
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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia by Gan-Or, Ziv, Bouslam, Naima, Birouk, Nazha, Lissouba, Alexandra, Chambers, Daniel B., Vérièpe, Julie, Androschuk, Alaura, Laurent, Sandra B., Rochefort, Daniel, Spiegelman, Dan, Dionne-Laporte, Alexandre, Szuto, Anna, Liao, Meijiang, Figlewicz, Denise A., Bouhouche, Ahmed, Benomar, Ali, Yahyaoui, Mohamed, Ouazzani, Reda, Yoon, Grace, Dupré, Nicolas, Suchowersky, Oksana, Bolduc, Francois V., Parker, J. Alex, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A., Ouled Amar Bencheikh, Bouchra

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Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies by Krohn, Lynne, Öztürk, Tuğba Nur, Vanderperre, Benoît, Ouled Amar Bencheikh, Bouchra, Ruskey, Jennifer A., Laurent, Sandra B., Spiegelman, Dan, Postuma, Ronald B., Arnulf, Isabelle, Hu, Michele T. M., Dauvilliers, Yves, Högl, Birgit, Stefani, Ambra, Monaca, Christelle Charley, Plazzi, Giuseppe, Antelmi, Elena, Ferini‐Strambi, Luigi, Heidbreder, Anna, Rudakou, Uladzislau, Cochen De Cock, Valérie, Young, Peter, Wolf, Pavlina, Oliva, Petra, Zhang, Xiaokui Kate, Greenbaum, Lior, Liong, Christopher, Gagnon, Jean‐François, Desautels, Alex, Hassin‐Baer, Sharon, Montplaisir, Jacques Y., Dupré, Nicolas, Rouleau, Guy A., Fon, Edward A., Trempe, Jean‐François, Lamoureux, Guillaume, Alcalay, Roy N., Gan‐Or, Ziv

“…Objective The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome‐wide association studies of Parkinson disease (PD). We aimed to identify the…”
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SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease by Alcalay, Roy N., Mallett, Victoria, Vanderperre, Benoît, Tavassoly, Omid, Dauvilliers, Yves, Wu, Richard Y.J., Ruskey, Jennifer A., Leblond, Claire S., Ambalavanan, Amirthagowri, Laurent, Sandra B., Spiegelman, Dan, Dionne‐Laporte, Alexandre, Liong, Christopher, Levy, Oren A., Fahn, Stanley, Waters, Cheryl, Kuo, Sheng‐Han, Chung, Wendy K., Ford, Blair, Marder, Karen S., Kang, Un Jung, Hassin‐Baer, Sharon, Greenbaum, Lior, Trempe, Jean‐Francois, Wolf, Pavlina, Oliva, Petra, Zhang, Xiaokui Kate, Clark, Lorraine N., Langlois, Melanie, Dion, Patrick A., Fon, Edward A., Dupre, Nicolas, Rouleau, Guy A., Gan‐Or, Ziv

“…Background SMPD1 (acid‐sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of this study was to further…”
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Fine‐Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies by Krohn, Lynne, Wu, Richard Y. J., Heilbron, Karl, Ruskey, Jennifer A., Laurent, Sandra B., Blauwendraat, Cornelis, Alam, Armaghan, Arnulf, Isabelle, Hu, Michele T. M., Dauvilliers, Yves, Högl, Birgit, Toft, Mathias, Bjørnarå, Kari Anne, Stefani, Ambra, Holzknecht, Evi, Monaca, Christelle Charley, Abril, Beatriz, Plazzi, Giuseppe, Antelmi, Elena, Ferini‐Strambi, Luigi, Young, Peter, Heidbreder, Anna, Cochen De Cock, Valérie, Mollenhauer, Brit, Sixel‐Döring, Friederike, Trenkwalder, Claudia, Sonka, Karel, Kemlink, David, Figorilli, Michela, Puligheddu, Monica, Dijkstra, Femke, Viaene, Mineke, Oertel, Wolfang, Toffoli, Marco, Gigli, Gian Luigi, Valente, Mariarosaria, Gagnon, Jean‐François, Nalls, Mike A., Singleton, Andrew B., Desautels, Alex, Montplaisir, Jacques Y., Cannon, Paul, Ross, Owen A., Boeve, Bradley F., Dupré, Nicolas, Fon, Edward A., Postuma, Ronald B., Pihlstrøm, Lasse, Rouleau, Guy A., Gan‐Or, Ziv

“…Objective Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We…”
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LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease by Sosero, Yuri L., Yu, Eric, Krohn, Lynne, Rudakou, Uladzislau, Mufti, Kheireddin, Ruskey, Jennifer A., Asayesh, Farnaz, Laurent, Sandra B., Spiegelman, Dan, Fahn, Stanley, Waters, Cheryl, Sardi, S. Pablo, Bandres-Ciga, Sara, Alcalay, Roy N., Gan-Or, Ziv, Senkevich, Konstantin

“…The LRRK2 p.G2019S Parkinson's disease (PD) variant is associated with elevated glucocerebrosidase (GCase) activity in peripheral blood. We aimed to evaluate…”
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Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease by Saini, Prabhjyot, Rudakou, Uladzislau, Yu, Eric, Ruskey, Jennifer A., Asayesh, Farnaz, Laurent, Sandra B., Spiegelman, Dan, Fahn, Stanley, Waters, Cheryl, Monchi, Oury, Dauvilliers, Yves, Dupré, Nicolas, Greenbaum, Lior, Hassin-Baer, Sharon, Espay, Alberto J., Rouleau, Guy A., Alcalay, Roy N., Fon, Edward A., Postuma, Ronald B., Gan-Or, Ziv

“…Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease (PD). The…”
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Common and rare GCH1 variants are associated with Parkinson's disease by Rudakou, Uladzislau, Ouled Amar Bencheikh, Bouchra, Ruskey, Jennifer A., Krohn, Lynne, Laurent, Sandra B., Spiegelman, Dan, Liong, Christopher, Fahn, Stanley, Waters, Cheryl, Monchi, Oury, Fon, Edward A., Dauvilliers, Yves, Alcalay, Roy N., Dupré, Nicolas, Gan-Or, Ziv

“…GCH1 encodes the enzyme guanosine triphospahte (GTP) cyclohydrolase 1, essential for dopamine synthesis in nigrostriatal cells, and rare mutations in GCH1 may…”
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Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder by Mufti, Kheireddin, Yu, Eric, Rudakou, Uladzislau, Krohn, Lynne, Ruskey, Jennifer A., Asayesh, Farnaz, Laurent, Sandra B., Spiegelman, Dan, Arnulf, Isabelle, Hu, Michele T.M., Montplaisir, Jacques Y., Gagnon, Jean-François, Desautels, Alex, Dauvilliers, Yves, Gigli, Gian Luigi, Valente, Mariarosaria, Janes, Francesco, Bernardini, Andrea, Högl, Birgit, Stefani, Ambra, Holzknecht, Evi, Sonka, Karel, Kemlink, David, Oertel, Wolfgang, Janzen, Annette, Plazzi, Giuseppe, Antelmi, Elena, Figorilli, Michela, Puligheddu, Monica, Mollenhauer, Brit, Trenkwalder, Claudia, Sixel-Döring, Friederike, Cochen De Cock, Valérie, Monaca, Christelle Charley, Heidbreder, Anna, Ferini-Strambi, Luigi, Dijkstra, Femke, Viaene, Mineke, Abril, Beatriz, Boeve, Bradley F., Trempe, Jean-François, Rouleau, Guy A., Postuma, Ronald B., Gan-Or, Ziv

“…To examine the role of genes identified through genome-wide association studies (GWASs) of Parkinson disease (PD) in the risk of isolated REM sleep behavior…”
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Oligogenicity, C9orf72 expansion, and variant severity in ALS by Ross, Jay P., Leblond, Claire S., Laurent, Sandra B., Spiegelman, Dan, Dionne-Laporte, Alexandre, Camu, William, Dupré, Nicolas, Dion, Patrick A., Rouleau, Guy A.

“…“Oligogenic inheritance” is used to describe cases where more than one rare pathogenic variant is observed in the same individual. While multiple variants can…”
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Variants in the Niemann–Pick type C gene NPC1 are not associated with Parkinson's disease by Ouled Amar Bencheikh, Bouchra, Senkevich, Konstantin, Rudakou, Uladzislau, Yu, Eric, Mufti, Kheireddin, Ruskey, Jennifer A., Asayesh, Farnaz, Laurent, Sandra B., Spiegelman, Dan, Fahn, Stanley, Waters, Cheryl, Monchi, Oury, Dauvilliers, Yves, Espay, Alberto J., Dupré, Nicolas, Greenbaum, Lior, Hassin-Baer, Sharon, Rouleau, Guy A., Alcalay, Roy N., Fon, Edward A., Gan-Or, Ziv

“…Biallelic variants in NPC1, a gene coding for a lysosomal transmembrane protein involved in cholesterol trafficking, may cause Niemann–Pick disease type C…”
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Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder by Li, Jiao, Ruskey, Jennifer A., Arnulf, Isabelle, Dauvilliers, Yves, Hu, Michele T.M., Högl, Birgit, Leblond, Claire S., Zhou, Sirui, Ambalavanan, Amirthagowri, Ross, Jay P., Bourassa, Cynthia V., Spiegelman, Dan, Laurent, Sandra B, Stefani, Ambra, Charley Monaca, Christelle, Cochen De Cock, Valérie, Boivin, Michel, Ferini‐Strambi, Luigi, Plazzi, Giuseppe, Antelmi, Elena, Young, Peter, Heidbreder, Anna, Labbe, Catherine, Ferman, Tanis J., Dion, Patrick A., Fan, Dongsheng, Desautels, Alex, Gagnon, Jean‐François, Dupré, Nicolas, Fon, Edward A., Montplaisir, Jacques Y., Boeve, Bradley F., Postuma, Ronald B., Rouleau, Guy A., Ross, Owen A., Gan‐Or, Ziv

“…ABSTRACT Background: MAPT haplotypes are associated with PD, but their association with rapid eye movement sleep behavior disorder is unclear. Objective: To…”
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Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder by Mufti, Kheireddin, Rudakou, Uladzislau, Yu, Eric, Krohn, Lynne, Ruskey, Jennifer A., Asayesh, Farnaz, Laurent, Sandra B., Spiegelman, Dan, Arnulf, Isabelle, Hu, Michele T.M., Montplaisir, Jacques Y., Gagnon, Jean‐François, Desautels, Alex, Dauvilliers, Yves, Gigli, Gian Luigi, Valente, Mariarosaria, Janes, Francesco, Högl, Birgit, Stefani, Ambra, Holzknecht, Evi, Šonka, Karel, Kemlink, David, Oertel, Wolfgang, Janzen, Annette, Plazzi, Giuseppe, Antelmi, Elena, Figorilli, Michela, Puligheddu, Monica, Mollenhauer, Brit, Trenkwalder, Claudia, Sixel‐Döring, Friederike, Cochen De Cock, Valérie, Monaca, Christelle Charley, Heidbreder, Anna, Ferini‐Strambi, Luigi, Dijkstra, Femke, Viaene, Mineke, Abril, Beatriz, Boeve, Bradley F., Postuma, Ronald B., Rouleau, Guy A., Gan‐Or, Ziv

“…ABSTRACT Background There is only partial overlap in the genetic background of isolated rapid‐eye‐movement sleep behavior disorder (iRBD) and Parkinson's…”
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Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases by Schmouth, Jean-François, Houle, Gabrielle, Ambalavanan, Amirthagowri, Leblond, Claire S., Spiegelman, Dan, Laurent, Sandra B., Bourassa, Cynthia V., Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Vilariño-Güell, Carles, Rajput, Alex, Dion, Patrick A., Rouleau, Guy A.

“…Essential Tremor is a prevalent neurological disorder of unknown etiology. Studies suggest that genetic factors contribute to this pathology. To date, no…”
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Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population by Houle, Gabrielle, Schmouth, Jean‐François, Leblond, Claire S., Ambalavanan, Amirthagowri, Spiegelman, Dan, Laurent, Sandra B., Bourassa, Cynthia V., Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Vilariño‐Güell, Carles, Rajput, Alex, Dion, Patrick A., Rouleau, Guy A.

“…ABSTRACT Introduction Mutations in teneurin transmembrane protein 4 were reported to be a risk factor for essential tremor, but the relevance of this across…”
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Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder by Sosero, Yuri L, Yu, Eric, Estiar, Mehrdad A, Krohn, Lynne, Mufti, Kheireddin, Rudakou, Uladzislau, Ruskey, Jennifer A, Asayesh, Farnaz, Laurent, Sandra B, Spiegelman, Dan, Trempe, Jean-François, Quinnell, Timothy G, Oscroft, Nicholas, Arnulf, Isabelle, Montplaisir, Jacques Y, Gagnon, Jean-François, Desautels, Alex, Dauvilliers, Yves, Gigli, Gian Luigi, Valente, Mariarosaria, Janes, Francesco, Bernardini, Andrea, Sonka, Karel, Kemlink, David, Oertel, Wolfgang, Janzen, Annette, Plazzi, Giuseppe, Antelmi, Elena, Biscarini, Francesco, Figorilli, Michela, Puligheddu, Monica, Mollenhauer, Brit, Trenkwalder, Claudia, Sixel-Döring, Friederike, Cochen De Cock, Valérie, Monaca, Christelle Charley, Heidbreder, Anna, Ferini-Strambi, Luigi, Dijkstra, Femke, Viaene, Mineke, Abril, Beatriz, Boeve, Bradley F, Postuma, Ronald B, Rouleau, Guy A, Ibrahim, Abubaker, Stefani, Ambra, Högl, Birgit, Hu, Michele T M, Gan-Or, Ziv

“…PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. GBA mutations are associated with idiopathic/isolated REM sleep behavior…”
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Analysis of common and rare VPS13C variants in late-onset Parkinson disease by Rudakou, Uladzislau, Ruskey, Jennifer A., Krohn, Lynne, Laurent, Sandra B., Spiegelman, Dan, Greenbaum, Lior, Yahalom, Gilad, Desautels, Alex, Montplaisir, Jacques Y., Fahn, Stanley, Waters, Cheryl H., Levy, Oren, Kehoe, Caitlin M., Narayan, Sushma, Dauvilliers, Yves, Dupré, Nicolas, Hassin-Baer, Sharon, Alcalay, Roy N., Rouleau, Guy A., Fon, Edward A., Gan-Or, Ziv

“…We aimed to study the role of coding variants in a large cohort of patients with late-onset Parkinson disease (PD) (LOPD). and its untranslated regions were…”
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The role of the melanoma gene MC1R in Parkinson disease and REM sleep Behavior Disorder by Gan-Or, Ziv, Mohsin, Noreen, Girard, Simon L, Montplaisir, Jacques Y, Ambalavanan, Amirthagowri, Strong, Stephanie, Mallett, Victoria, Laurent, Sandra B, Bourassa, Cynthia V, Boivin, Michel, Langlois, Melanie, Arnulf, Isabelle, Högl, Birgit, Frauscher, Birgit, Monaca, Christelle, Desautels, Alex, Gagnon, Jean-François, Postuma, Ronald B, Dion, Patrick A, Dauvilliers, Yves, Dupre, Nicolas, Alcalay, Roy N, Rouleau, Guy A

“…Abstract The MC1R gene, suggested to be involved in Parkinson disease (PD) and melanoma, was sequenced in PD patients (n=539) and controls (n=265) from…”
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No rare deleterious variants from STK32B , PPARGC1A , and CTNNA3 are associated with essential tremor by Houle, Gabrielle, Ambalavanan, Amirthagowri, Schmouth, Jean-François, Leblond, Claire S, Spiegelman, Dan, Laurent, Sandra B, Bourassa, Cynthia V, Grayson, Celene, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Vilariño-Güell, Carles, Rajput, Alex, Girard, Simon L, Dion, Patrick A, Rouleau, Guy A

“…To assess the contribution of variants in , , and as essential tremor (ET) predisposing factors following their association in a 2-stage genome-wide…”
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