Genetic, structural and clinical analysis of spastic paraplegia 4.
暂无分享,去创建一个
M. Tarnopolsky | O. Suchowersky | G. Rouleau | K. Boycott | S. Ashtiani | J. Trempe | D. Spiegelman | Z. Gan-Or | N. Dupré | S. Veyron | M. Estiar | G. Yoon | E. Yu | E. Leveille | K. Mufti | M. Rioux | P. Varghaei | Etienne Leveille | Kheireddin Mufti
[1] X. Montalban,et al. The apparently milder course of multiple sclerosis: changes in the diagnostic criteria, therapy and natural history. , 2020, Brain : a journal of neurology.
[2] T. Counihan,et al. Co-incident primary progressive multiple sclerosis and hereditary spastic paraplegia (SPG4) - a case report. , 2020, Multiple sclerosis and related disorders.
[3] J. Santos-Guzmán,et al. Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant , 2020, The American journal of case reports.
[4] E. Brilstra,et al. De novo SPAST mutations may cause a complex SPG4 phenotype. , 2019, Brain : a journal of neurology.
[5] G. Lander,et al. An allosteric network in spastin couples multiple activities required for microtubule severing , 2019, Nature Structural & Molecular Biology.
[6] G. Stevanin,et al. Update on the Genetics of Spastic Paraplegias , 2019, Current Neurology and Neuroscience Reports.
[7] S. Tezenas du Montcel,et al. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex , 2018, Brain : a journal of neurology.
[8] Silvio C. E. Tosatto,et al. InterPro in 2019: improving coverage, classification and access to protein sequence annotations , 2018, Nucleic Acids Res..
[9] K. Boycott,et al. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST , 2018, Journal of child neurology.
[10] X. Zuo,et al. Katanin spiral and ring structures shed light on power stroke for microtubule severing , 2017, Nature Structural &Molecular Biology.
[11] N. Wood,et al. Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.
[12] E. Magnin,et al. Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia , 2016, Behavioural neurology.
[13] Zacharias Kohl,et al. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients , 2016, Annals of neurology.
[14] J. Solowska,et al. Hereditary spastic paraplegia SPG4: what is known and not known about the disease. , 2015, Brain : a journal of neurology.
[15] C. Blackstone,et al. Loss of Spastin Function Results in Disease‐Specific Axonal Defects in Human Pluripotent Stem Cell‐Based Models of Hereditary Spastic Paraplegia , 2014, Stem cells.
[16] P. Chinnery,et al. The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia , 2012, Journal of Neurology.
[17] Nicholas W. Wood,et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling , 2012, Bioinform..
[18] P. Mailly,et al. Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice , 2012, Disease Models & Mechanisms.
[19] D. Burke,et al. Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation – A neurophysiological study using excitability techniques , 2012, Clinical Neurophysiology.
[20] H. J. Schelhaas,et al. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations , 2010, Journal of Neurology, Neurosurgery & Psychiatry.
[21] M. Hutchinson,et al. Dementia in SPG4 hereditary spastic paraplegia , 2009, Neurology.
[22] M. Shoukier,et al. Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia , 2009, European Journal of Human Genetics.
[23] B. Brais,et al. SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia , 2007, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[24] M. Ruberg,et al. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia , 2006, Journal of Medical Genetics.
[25] G. Gundersen,et al. Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing , 2005, The Journal of cell biology.
[26] C. Krarup,et al. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation , 2004, European journal of neurology.
[27] M. Pericak-Vance,et al. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations , 2004, Neurogenetics.
[28] E. Rugarli,et al. Hereditary spastic paraplegia: clinical genetic study of 15 families. , 2004, Archives of neurology.
[29] G. Bernardi,et al. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts , 2004, Neurology.
[30] B. Dubois,et al. Subtle cognitive impairment but no dementia in patients with spastin mutations. , 2003, Archives of neurology.
[31] E. Rugarli,et al. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. , 2002, Human molecular genetics.
[32] G. Plant,et al. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members , 2001, Journal of neurology, neurosurgery, and psychiatry.
[33] M. Pericak-Vance,et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. , 2001, American journal of human genetics.
[34] C. Blackstone. Hereditary spastic paraplegia. , 2018, Handbook of clinical neurology.
[35] A. Durr,et al. Mental deficiency in three families with SPG4 spastic paraplegia , 2008, European Journal of Human Genetics.