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Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8

Parkinsonism & related disorders, 2021-04, Vol.85, p.26-28

2021

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SPG8 mutations in Italian families: clinical data and literature review

Neurological sciences, 2020-03, Vol.41 (3), p.699-703

2020

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Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria

Journal of neurology, 2019-10, Vol.266 (10), p.2434-2439

2019

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A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10

Revue neurologique, 2021-01, Vol.177 (1-2), p.152-154

2021

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EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

European journal of neurology, 2010-02, Vol.17 (2), p.179-188

2010

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A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Internal Medicine, 2020/09/15, Vol.59(18), pp.2311-2315

2020

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Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset

Pediatric neurology, 2014-11, Vol.51 (5), p.726-729

2014

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The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Orphanet journal of rare diseases, 2015-11, Vol.10 (147), p.147, Article 147

2015

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A polymorphic Alu insertion that mediates distinct disease-associated deletions

European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1371-1374

2016

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Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8

Clinical neurology and neurosurgery, 2016-05, Vol.144, p.36-38

2016

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Enabling Task-Specific Volitional Motor Functions via Spinal Cord Neuromodulation in a Human With Paraplegia

Mayo Clinic proceedings, 2017-04, Vol.92 (4), p.544-554

2017

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Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia

International journal of neuroscience, 2014-04, Vol.124 (4), p.261-270

2014

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

Ophthalmology (Rochester, Minn.), 2011-03, Vol.118 (3), p.564-573

2011

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Adjunctive hyperbaric oxygen therapy for spinal cord ischemia after complex aortic repair

Journal of vascular surgery, 2024-03, Vol.79 (3), p.478-484

2024

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Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

JAMA neurology, 2013-06, Vol.70 (6), p.746

2013

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Transverse myelitis related to COVID-19 infection

Journal of neurology, 2020-12, Vol.267 (12), p.3459-3461

2020

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An approach to personalized cell therapy in chronic complete paraplegia: The Puerta de Hierro phase I/II clinical trial

Cytotherapy (Oxford, England), 2016-08, Vol.18 (8), p.1025-1036

2016

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MRI findings in children with acute flaccid paralysis and cranial nerve dysfunction occurring during the 2014 enterovirus D68 outbreak

American journal of neuroradiology : AJNR, 2015-02, Vol.36 (2), p.245-250

2015

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De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

Journal of medical genetics, 2019-03, Vol.56 (3), p.164-175

2019

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Risk factors for spinal cord ischemia after endovascular repair of thoracoabdominal aortic aneurysms

Journal of vascular surgery, 2015-06, Vol.61 (6), p.1408-1416

2015

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Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism

Journal of Korean Medical Science, 2013, 28(11), 182, pp.1661-1666

2013

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Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

Internal Medicine, 2013, Vol.52(14), pp.1629-1633

2013

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Current Best Peripheral Nerve Transfers for Spinal Cord Injury

Plastic and reconstructive surgery (1963), 2019-01, Vol.143 (1), p.184e-198e

2019

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Cell therapy with autologous mesenchymal stromal cells in post-traumatic syringomyelia

Cytotherapy (Oxford, England), 2018-06, Vol.20 (6), p.796-805

2018

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Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

Cerebellum (London, England), 2019-08, Vol.18 (4), p.781-790

2019

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Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8

SPG8 mutations in Italian families: clinical data and literature review

Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria

A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

A polymorphic Alu insertion that mediates distinct disease-associated deletions

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8

Enabling Task-Specific Volitional Motor Functions via Spinal Cord Neuromodulation in a Human With Paraplegia

Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia

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

Adjunctive hyperbaric oxygen therapy for spinal cord ischemia after complex aortic repair

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

Transverse myelitis related to COVID-19 infection

An approach to personalized cell therapy in chronic complete paraplegia: The Puerta de Hierro phase I/II clinical trial

MRI findings in children with acute flaccid paralysis and cranial nerve dysfunction occurring during the 2014 enterovirus D68 outbreak

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

Risk factors for spinal cord ischemia after endovascular repair of thoracoabdominal aortic aneurysms

Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism

Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

Current Best Peripheral Nerve Transfers for Spinal Cord Injury

Cell therapy with autologous mesenchymal stromal cells in post-traumatic syringomyelia

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

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