Hereditary Spastic Paraplegia

Hereditary spastic paraplegia is a neurodegenerative disorder characterized by spastic paraplegia, cognitive impairment, peripheral neuropathy, and progressive spasticity of lower limbs. Here is a latest research.

December 7, 2021

Different fusion tags affect the activity of ubiquitin overexpression on spastin protein stability.

European Journal of Histochemistry : EJH
Jianyu ZouMinghui Tan
December 6, 2021

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Carlotta SpagnoliCarlo Fusco
December 2, 2021

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.

Clinica Chimica Acta; International Journal of Clinical Chemistry
Khaoula RochdiMartin Krahn
December 1, 2021
Open Access

Evoked potentials as biomarkers of hereditary spastic paraplegias: A case-control study.

PloS One
Samanta Ferraresi BrighenteJonas Alex Morales Saute
November 28, 2021
Open Access

ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia.

Sonia SondaAndrea Daga
November 27, 2021

Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.

Annals of Neurology
Mehrdad A EstiarZiv Gan-Or
November 25, 2021

Hereditary spastic paraplegia initially diagnosed as cerebral palsy.

Clinical Parkinsonism & Related Disorders
Oksana SuchowerskyGuy A Rouleau
November 25, 2021

A Randomized Controlled Trial of the Effect of Repetitive Transcranial Magnetic Stimulation of the Motor Cortex on Lower Extremity Spasticity in Hereditary Spastic Paraplegia.

Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society
Pouya B BastaniSiamak Abdi
November 24, 2021
Open Access

Diagnosis of orthostatic tremor using smartphone accelerometry.

BMC Neurology
Nicholas E Calvo, Joseph M Ferrara
November 20, 2021

Hereditary Spastic<br /> Paraplegia: Role of MRI.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Abdur Rahim PalwaKhurram Haqnawaz
November 17, 2021
Open Access

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Scientific Reports
Gabriela Marchisio GiordaniJonas Alex Morales Saute
November 17, 2021

A Diagnostic Approach to Spastic ataxia Syndromes.

The Cerebellum
José Luiz PedrosoRenato Puppi Munhoz
November 10, 2021
Case Report

Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.

Neuropathology : Official Journal of the Japanese Society of Neuropathology
Trevor M SytsmaCaitlin S Latimer
November 5, 2021

The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
Alzira Alves De Siqueira CarvalhoPaulo Victor Sgobbi De Souza

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