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

Revue neurologique, 2015-06, Vol.171 (6-7), p.505-530

2015

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Hereditary spastic paraplegia: More than an upper motor neuron disease

Revue neurologique, 2017-05, Vol.173 (5), p.352-360

2017

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Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Cerebellum (London, England), 2014-04, Vol.13 (2), p.269-302

2014

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Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

Journal of internal medicine, 2021-05, Vol.289 (5), p.709-725

2021

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

Neurology, 2011-11, Vol.77 (20), p.1853-1855

2011

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

Brain (London, England : 1878), 2003-07, Vol.126 (7), p.1599-1603

2003

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

Neurology, 2010-06, Vol.74 (24), p.2000-2003

2010

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Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

Neurology, 2007-11, Vol.69 (21), p.1970-1975

2007

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

Neurology, 2009-10, Vol.73 (14), p.1111-1119

2009

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

Journal of medical genetics, 2007-04, Vol.44 (4), p.281-284

2007

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Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

Clinical genetics, 2009-06, Vol.75 (6), p.527-536

2009

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

Neurology, 2006-01, Vol.66 (1), p.112-114

2006

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

Neurology, 2006-03, Vol.66 (5), p.654-659

2006

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

Neurology, 2006-11, Vol.67 (10), p.1769-1773

2006

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

European journal of neurology, 2013-02, Vol.20 (2), p.398-401

2013

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Spinocerebellar ataxia type 36 (SCA36): Expanding the Genotype and Phenotype

Journal of the neurological sciences, 2013-10, Vol.333, p.e68-e69

2013

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

Acta neurologica Scandinavica, 2012-02, Vol.125 (2), p.116-122

2012

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

Neurogenetics, 2015-07, Vol.16 (3), p.243-243

2015

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

Neurology, 2007-05, Vol.68 (21), p.1837-1840

2007

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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

American journal of human genetics, 1998-10, Vol.63 (4), p.1060-1066

1998

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De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7

Human molecular genetics, 1998-10, Vol.7 (11), p.1809-1813

1998

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Colonizations and infections due to 3GCR Enterobacteriaceae in a University hospital in Italy

European journal of public health, 2023-10, Vol.33 (Supplement_2)

2023

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Management and control of an outbreak of NDM-producing Klebsiella pneumoniae in a teaching hospital

European journal of public health, 2023-10, Vol.33 (Supplement_2)

2023

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Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

Human molecular genetics, 1997-05, Vol.6 (5), p.709-715

1997

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

Human molecular genetics, 2001-10, Vol.10 (22), p.2569-2579

2001

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

Hereditary spastic paraplegia: More than an upper motor neuron disease

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

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

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

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

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

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

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

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

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

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

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

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

Spinocerebellar ataxia type 36 (SCA36): Expanding the Genotype and Phenotype

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

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

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

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

De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7

Colonizations and infections due to 3GCR Enterobacteriaceae in a University hospital in Italy

Management and control of an outbreak of NDM-producing Klebsiella pneumoniae in a teaching hospital

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

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

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