Posts Tagged: spatax

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

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function   by Mendoza Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function   by Mendoza Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED by : Trimouille A, Obre E, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED by : Trimouille A, Obre E, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

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 Durand CM et al, Human Mut 2018, 39:140-151 (advance online 1st November 2017) Abstract Hereditary Spastic

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 Durand CM et al, Human Mut 2018, 39:140-151 (advance online 1st November 2017) Abstract Hereditary Spastic

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,