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Lista de obras de Giovanni Stevanin

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

artículo científico publicado en 2014

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

artículo científico publicado en 2016

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes.

artículo científico publicado en 2007

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult

artículo científico publicado en 2012

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

article

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

artículo científico publicado en 2010

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

article

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

artículo científico publicado en 2010

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

artículo científico publicado en 2007

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

artículo científico publicado en 2006

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

artículo científico publicado en 2007

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

artículo científico publicado en 2017

A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved

scientific article published on 01 September 1997

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus

artículo científico publicado en 1994

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

artículo científico publicado en 2010

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

artículo científico publicado en 2018

ATXN2 trinucleotide repeat length correlates with risk of ALS.

artículo científico publicado en 2016

Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.

artículo científico publicado en 1993

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort

article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

artículo científico publicado en 2012

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

artículo científico publicado en 2013

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

artículo científico publicado en 2015

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

artículo científico publicado en 1996

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

artículo científico publicado en 2018

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

artículo científico publicado en 2008

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

article

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

artículo científico publicado en 2000

Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

Are interruptedSCA2CAG repeat expansions responsible for parkinsonism?

scholarly article by P. Charles et al published 13 June 2007 in Neurology

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

artículo científico publicado en 2004

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

article

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families

artículo científico publicado en 1996

Autosomal dominant cerebellar ataxias

artículo científico publicado en 2011

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey

artículo científico publicado en 2013

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

artículo científico publicado en 2006

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

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

artículo científico publicado en 2018

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

artículo científico publicado en 2001

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

artículo científico publicado en 2017

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

artículo científico publicado en 2009

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

artículo científico publicado en 2018

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

artículo científico publicado en 2011

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

artículo científico publicado en 1995

Clinical and MRI findings in spinocerebellar ataxia type 5

artículo científico publicado en 1999

Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus

artículo científico publicado en 1997

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting

artículo científico

Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan

artículo científico publicado en 2000

Clinical and molecular features of spinocerebellar ataxia type 6

artículo científico publicado en 1997

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

artículo científico publicado en 1997

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

artículo científico publicado en 1996

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

artículo científico publicado en 1998

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

artículo científico publicado en 2009

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias

artículo científico publicado en 2014

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

artículo científico publicado en 2014

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

artículo científico publicado en 2013

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

artículo científico publicado en 2016

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

artículo científico publicado en 2016

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

artículo científico publicado en 2015

Differential distribution of the normal and mutated forms of huntingtin in the human brain

artículo científico publicado en 1997

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

artículo científico publicado en 2008

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group ⬇️

artículo científico publicado el 1 de noviembre de 1992

ELOVL5 mutations cause spinocerebellar ataxia 38

artículo científico publicado en 2014

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

artículo científico publicado en 2018

Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1

article

Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

scholarly article published in Neurogenetics

Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia

artículo científico publicado en 1995

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

artículo científico publicado en 2006

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

artículo científico publicado en 2016

Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.

artículo científico publicado en 2010

Familial essential tremor and idiopathic torsion dystonia are different genetic entities

artículo científico publicado en 1993

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

artículo científico publicado en 2015

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis

artículo científico publicado en 1999

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

artículo científico publicado en 2004

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

artículo científico publicado en 2015

Gender equality in Machado–Joseph disease

article published in 1995

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families

artículo científico publicado en 1993

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus

article

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

artículo científico

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

artículo científico publicado en 2013

Hereditary ataxias and paraparesias

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

artículo científico publicado en 2013

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

artículo científico publicado en 2008

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity

artículo científico publicado en 2006

Hereditary spastic paraplegia: More than an upper motor neuron disease

artículo científico publicado en 2017

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

artículo científico

Hereditary spastic paraplegias: an update

artículo científico publicado en 2007

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

artículo científico publicado en 2016

Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies

scientific article published on 30 April 2019

Heterozygous OPA1 mutations in Behr syndrome

artículo científico publicado en 2011

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

artículo científico publicado en 2003

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.

artículo científico publicado en 2013

Identification of a de novo mutation in SPG11.

artículo científico publicado en 2010

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

artículo científico publicado en 2008

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice

artículo científico publicado en 2013

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat

artículo científico publicado en 1996

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.

artículo científico publicado en 2018

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

article

Is DRPLA also linked to 14q?

artículo científico publicado en 1994

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

artículo científico publicado en 2015

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

artículo científico publicado en 2010

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

artículo científico publicado en 2012

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

artículo científico publicado en 2013

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

article

LINGO1 polymorphisms are associated with essential tremor in Europeans

artículo científico publicado en 2010

LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic

scientific article published on 10 July 2018

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

artículo científico publicado en 2006

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

artículo científico publicado en 2016

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

artículo científico publicado en 1995

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon

artículo científico publicado en 1997

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

artículo científico publicado en 2015

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

artículo científico publicado en 2014

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

artículo científico publicado en 2013

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

scientific article published on 08 May 2019

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

artículo científico publicado en 2017

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

artículo científico publicado en 2005

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

artículo científico publicado en 2017

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

artículo científico publicado en 2018

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

artículo científico publicado en 2010

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

artículo científico publicado en 2016

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

artículo científico publicado en 2014

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

artículo científico publicado en 1997

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

artículo científico publicado en 1999

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

artículo científico publicado en 2016

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).

artículo científico publicado en 1999

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

artículo científico publicado en 2014

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

artículo científico publicado en 2006

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

artículo científico publicado en 2015

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

artículo científico publicado en 2004

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala

artículo científico publicado en 2012

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation

artículo científico publicado en 2017

Mutations in KCND3 cause spinocerebellar ataxia type 22.

artículo científico publicado en 2012

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

artículo científico publicado en 2007

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

artículo científico publicado en 2007

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

artículo científico publicado en 2006

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

artículo científico publicado en 2013

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

artículo científico publicado en 2005

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2015

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

artículo científico publicado en 2013

No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24

artículo científico publicado en 2000

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.

artículo científico publicado en 2012

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

artículo científico publicado en 2017

Ophthalmic features ofPLA2G6-related paediatric neurodegeneration with brain iron accumulation

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

artículo científico publicado en 2013

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

artículo científico publicado en 2003

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

artículo científico publicado en 2013

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

artículo científico publicado en 2016

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

artículo científico publicado en 2011

Paraplégie spastique familiale avec amyotrophie sévère des mains (syndrome de Silver?)

artículo científico publicado en 2007

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

artículo científico publicado en 2011

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

artículo científico publicado en 1993

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

artículo científico publicado en 2017

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity

artículo científico publicado en 2005

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

artículo científico publicado en 1995

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

artículo científico publicado en 2014

Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

scientific article published on 01 August 2018

RAD51 haploinsufficiency causes congenital mirror movements in humans

artículo científico publicado en 2012

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

artículo científico publicado en 2011

Recent advances in the genetics of spastic paraplegias

artículo científico publicado en 2008

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes

article

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

artículo científico publicado en 2007

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

article

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

artículo científico publicado en 1997

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

artículo científico publicado en 2015

Reply: Updated frequency analysis of spinocerebellar ataxia in China

artículo científico publicado en 2018

Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons

artículo científico publicado en 2012

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

artículo científico publicado en 2018

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

artículo científico publicado en 2011

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

artículo científico publicado en 2011

SCA2 is not a major locus for ADCA type I in French families

article

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

artículo científico publicado en 2017

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

artículo científico publicado en 2009

SPG11--the most common type of recessive spastic paraplegia in Norway?

artículo científico publicado en 2008

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation

artículo científico publicado en 2007

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

artículo científico publicado en 2009

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

article

SYNE1 mutations in autosomal recessive cerebellar ataxia

artículo científico publicado en 2013

Saccade velocity in idiopathic and autosomal dominant cerebellar ataxia

artículo científico publicado en 1997

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.

artículo científico publicado en 2010

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

artículo científico publicado en 1996

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

artículo científico publicado en 2009

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

artículo científico publicado en 2004

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

artículo científico publicado en 2014

Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.

artículo científico publicado en 2001

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease

artículo científico publicado en 1998

Spastic paraplegia 15: linkage and clinical description of three Tunisian families

artículo científico publicado en 2008

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

scientific article published on 01 December 2018

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

artículo científico publicado en 2012

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

artículo científico publicado en 2006

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

artículo científico publicado en 2008

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

artículo científico publicado en 2012

Spectrin mutations cause spinocerebellar ataxia type 5.

artículo científico publicado en 2006

Spinocerebellar ataxia 13 and 25.

artículo científico publicado en 2012

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

artículo científico publicado en 2008

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features

artículo científico publicado en 1996

Spinocerebellar ataxia type 10 in the French population.

artículo científico publicado en 2002

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.

artículo científico publicado en 2010

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

artículo científico publicado en 2014

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

article

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

artículo científico publicado en 2002

Spinocerebellar ataxia with mental retardation (SCA13).

artículo científico publicado en 2005

Spinocerebellar ataxia with sensory neuropathy (SCA25)

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

artículo científico publicado en 2004

Spinocerebellar ataxias caused by polyglutamine expansions.

artículo científico publicado en 2002

Survival and severity in dominant cerebellar ataxias

artículo científico publicado en 2015

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

artículo científico publicado en 2014

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

artículo científico publicado en 2007

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

artículo científico publicado en 2013

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

artículo científico publicado en 2014

The gene for Machado–Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q

article

The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

artículo científico publicado en 1996

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

article

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2

artículo científico publicado en 1995

The impact of rare variants in FUS in essential tremor

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