Posts Tagged: spatax

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand et al, Hum Mut 2017

Tools developed to help in the diagnosis of spastic paraplegia 56 CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. by Christelle M. Durand et al, Human Mut 2017 Abstract Hereditary Spastic Paraplegia (HSP) is an inherited

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand et al, Hum Mut 2017

Tools developed to help in the diagnosis of spastic paraplegia 56 CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. by Christelle M. Durand et al, Human Mut 2017 Abstract Hereditary Spastic Paraplegia (HSP) is an inherited

ONLINE TUTORIAL FOR MAKING THE COMPOSITE CEREBELLAR FUNCTIONAL SCORE (CCFS) BOARD

Composite Cerebellar Functional Severity Score Board (CCFS Board) Pr Alexandra DURR, neurogeneticist, and Dr Sophie TEZENAS du MONTCEL, public health doctor, both working in the Salpêtrière University Hospital, in collaboration with the ICM LivingLab and FabLad (at the Brain and

ONLINE TUTORIAL FOR MAKING THE COMPOSITE CEREBELLAR FUNCTIONAL SCORE (CCFS) BOARD

Composite Cerebellar Functional Severity Score Board (CCFS Board) Pr Alexandra DURR, neurogeneticist, and Dr Sophie TEZENAS du MONTCEL, public health doctor, both working in the Salpêtrière University Hospital, in collaboration with the ICM LivingLab and FabLad (at the Brain and

ATXN2 trinucleotide repeat length correlates with risk of ALS. By Sproviero et al. Neurobiol Aging 2017 (advance online Nov 24, 2016)

ATXN2 trinucleotide repeat length correlates with risk of ALS Neurobiol Aging 2017 (advance online Nov 24, 2016) By : Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL,

ATXN2 trinucleotide repeat length correlates with risk of ALS. By Sproviero et al. Neurobiol Aging 2017 (advance online Nov 24, 2016)

ATXN2 trinucleotide repeat length correlates with risk of ALS Neurobiol Aging 2017 (advance online Nov 24, 2016) By : Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL,

Follow the news on the SPATAX/ASG meeting on spastic paraparesis and ataxias

5th International Meeting on Spastic Paraparesis and Ataxias Local organizers: Alexandra Durr, MD–PhD (APHP, UPMC) / Giovanni Stevanin, PhD (INSERM, EPHE) European organizers: Holm Graessner, PhD (University of Tuebingen) Sessions co-organizers: Sylvia Boesch, Thomas Klockgether, Caterina Mariotti, Massimo Pandolfo, Evan Reid,

Follow the news on the SPATAX/ASG meeting on spastic paraparesis and ataxias

5th International Meeting on Spastic Paraparesis and Ataxias Local organizers: Alexandra Durr, MD–PhD (APHP, UPMC) / Giovanni Stevanin, PhD (INSERM, EPHE) European organizers: Holm Graessner, PhD (University of Tuebingen) Sessions co-organizers: Sylvia Boesch, Thomas Klockgether, Caterina Mariotti, Massimo Pandolfo, Evan Reid,

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016, Paris

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016 hosted by the Institut du Cerveau et de la Moelle épinière, Paris, France Ataxias and spastic paraplegias are opposite ends of a continuum of neurological disorders. The fifth international meeting on

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016, Paris

International Meeting on Spastic Paraparesis and Ataxias June 23-25, 2016 hosted by the Institut du Cerveau et de la Moelle épinière, Paris, France Ataxias and spastic paraplegias are opposite ends of a continuum of neurological disorders. The fifth international meeting on

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,