Posts Tagged: Alexis Brice
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By Bouwkamp et al, Neurol Genet 2018
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By: Bouwkamp C, Afawi Z, Fattal-Valevski A, Krabbendam I, Rivetti S, Masalha R, Quadri M, Breedveld G, Mandel H, Abu Tailakh M, Beverloo B, Stevanin G, Brice A, Van Ijcken
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By Bouwkamp et al, Neurol Genet 2018
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By: Bouwkamp C, Afawi Z, Fattal-Valevski A, Krabbendam I, Rivetti S, Masalha R, Quadri M, Breedveld G, Mandel H, Abu Tailakh M, Beverloo B, Stevanin G, Brice A, Van Ijcken
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,
DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary
DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions by Denora et al, BRAIN 2016
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions by Denora et al, BRAIN 2016
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice,
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice,
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. By Jacobi et al, Lancet Neurol 2015
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. By Jacobi et al, Lancet Neurol 2015
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti
COUTELIER M et al. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015
COUTELIER M, STEVANIN G, BRICE A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015 (online April 11) Hereditary cerebellar ataxias (HCAs) are clinically and genetically heterogeneous neurodegenerative disorders, characterised by a cerebellar syndrome
COUTELIER M et al. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015
COUTELIER M, STEVANIN G, BRICE A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing [REVIEW]. J Neurol 2015 (online April 11) Hereditary cerebellar ataxias (HCAs) are clinically and genetically heterogeneous neurodegenerative disorders, characterised by a cerebellar syndrome
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier et al, NEUROLOGY 2015
Neurology. 2015 Apr 3. pii: 10.1212/WNL.0000000000001524. [Epub ahead of print] GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A,
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier et al, NEUROLOGY 2015
Neurology. 2015 Apr 3. pii: 10.1212/WNL.0000000000001524. [Epub ahead of print] GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A,
Mutation in CPT1C causes pure autosomal dominant spastic paraplegia. JAMA Neurol 2015; Rinaldi et al
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fado R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, DeMichele G, Santorelli FM, Filla A, Stevanin G, Durr A, Brice A, Casals N,
Mutation in CPT1C causes pure autosomal dominant spastic paraplegia. JAMA Neurol 2015; Rinaldi et al
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fado R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, DeMichele G, Santorelli FM, Filla A, Stevanin G, Durr A, Brice A, Casals N,
Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort. Lancet Neurol 2015
Reetz et al, Lancet Neurology 2015 Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Background Friedreich’s ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report
Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort. Lancet Neurol 2015
Reetz et al, Lancet Neurology 2015 Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Background Friedreich’s ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report
Triheptanoin improves brain energy metabolism in patients with Huntington disease. Adanyeguh et al, Neurology 2015
Triheptanoin improves brain energy metabolism in patients with Huntington disease Neurology 2015 Isaac Mawusi Adanyeguh, MS, Daisy Rinaldi, PhD, Pierre-Gilles Henry, PhD, Samantha Caillet, MS, Romain Valabregue, PhD, Alexandra Durr, MD, PhD and Fanny Mochel, MD, PhD Objective: Based on
Triheptanoin improves brain energy metabolism in patients with Huntington disease. Adanyeguh et al, Neurology 2015
Triheptanoin improves brain energy metabolism in patients with Huntington disease Neurology 2015 Isaac Mawusi Adanyeguh, MS, Daisy Rinaldi, PhD, Pierre-Gilles Henry, PhD, Samantha Caillet, MS, Romain Valabregue, PhD, Alexandra Durr, MD, PhD and Fanny Mochel, MD, PhD Objective: Based on
Survival and severity in dominant cerebellar ataxias. Monin et al, Ann Clin Trans Neurol 2015
Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Survival and severity in dominant cerebellar ataxias. Ann Clin Trans Neurol 2015 (advance online publication January 7). http://onlinelibrary.wiley.com/doi/10.1002/acn3.156/abstract
Survival and severity in dominant cerebellar ataxias. Monin et al, Ann Clin Trans Neurol 2015
Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Survival and severity in dominant cerebellar ataxias. Ann Clin Trans Neurol 2015 (advance online publication January 7). http://onlinelibrary.wiley.com/doi/10.1002/acn3.156/abstract
Fe/S Protein Assembly Gene IBA57 Mutation Causes SPOAN-like Hereditary Spastic Paraplegia. Lossos et al, Neurology 2015.
Lossos A, Stumpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R. Fe/S Protein Assembly Gene IBA57 Mutation
Fe/S Protein Assembly Gene IBA57 Mutation Causes SPOAN-like Hereditary Spastic Paraplegia. Lossos et al, Neurology 2015.
Lossos A, Stumpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R. Fe/S Protein Assembly Gene IBA57 Mutation
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2014 (advance online Dec 27)
Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2014 (advance
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2014 (advance online Dec 27)
Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2014 (advance
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion, JNNP 2014
J Neurol Neurosurg Psychiatry. 2014 Dec 4 online Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion, JNNP 2014
J Neurol Neurosurg Psychiatry. 2014 Dec 4 online Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger
Nouvelles avancées dans la génétique des ataxies spinocérébelleuses à l’ICM
Plusieurs avancées majeures sur les “ataxies spinocérébelleuses” (ou SCA pour SpinoCerebellar Ataxia), marquent l’actualité scientifique de l’ICM en faisant l’objet de 2 publications dans Brain et d’une 3ème dans The American Journal of Human Genetics. Maladie neurodégénérative du cervelet se
Nouvelles avancées dans la génétique des ataxies spinocérébelleuses à l’ICM
Plusieurs avancées majeures sur les “ataxies spinocérébelleuses” (ou SCA pour SpinoCerebellar Ataxia), marquent l’actualité scientifique de l’ICM en faisant l’objet de 2 publications dans Brain et d’une 3ème dans The American Journal of Human Genetics. Maladie neurodégénérative du cervelet se
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Abstract Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Abstract Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating
International conference on spinocerebellar degenerations of the SPATAX / ASG / EFACTS networks
LINK to IMAGES of the event, AWARDS etc…: follow the link here June 11-13, 2013 Organized by The Network of hereditary forms of SPAstic paraplegias and cerebellar ATAXias (SPATAX) The Ataxia Study Group (ASG) The European Friedreich’s Ataxia
International conference on spinocerebellar degenerations of the SPATAX / ASG / EFACTS networks
LINK to IMAGES of the event, AWARDS etc…: follow the link here June 11-13, 2013 Organized by The Network of hereditary forms of SPAstic paraplegias and cerebellar ATAXias (SPATAX) The Ataxia Study Group (ASG) The European Friedreich’s Ataxia
SPATAX Network : Clinical and Genetic Analysis of Spastic paraplegia and Ataxia 