Results 181 to 190 of about 16,402 (224)

Evidence of Dual Molecular Diagnosis of a Young Male Patient With Hereditary Spastic Paraplegia Carrying Two Rare Autosomal Mutations. [PDF]

Cureus
Machluf Y, Said M, Chechik Y, Ben-Dor S, Chaiter Y.   +4 more
europepmc   +1 more source

The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland. [PDF]

Orphanet J Rare Dis
Jeyakumar H, Chandan JS, Nirantharakumar K, Lee SI.   +3 more
europepmc   +1 more source

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias [PDF]

Devid Damiani, Matteo Baggiani, Stefania Della Vecchia, Valentina Naef, Filippo M. Santorelli   +4 more
openalex   +1 more source

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

, 2013
Roshan Koul, Fathiya Al-Murshedi, Faisal M. Al-Azri, Ranjit B. Mani, Rana Abdelrahim, Vivek Koul, Amna Al‐Futaisi   +6 more
openalex   +1 more source

Association of novel ERLIN2 gene variants with hereditary spastic paraplegia. [PDF]

Hum Genome Var
Bermejo Ramírez R, Villena Gascó N, Ruiz Palmero L, Ribes Bueno GA, Yamanaka ES, Piqueras Flores J, Flores Barragán JM, Buces González E, Arroyo Andújar JD.   +8 more
europepmc   +1 more source

Effect of virtual reality in hereditary spastic paraplegia: pilot randomized clinical trial [PDF]

Maria Izabel Rodrigues Severiano, Geslaine Janaína Bueno dos Santos, Flávio Magno Gonçalves, Cristiano Araújo, Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive   +5 more
openalex   +1 more source

Ears of the Lynx on Neuroimaging in a Patient with COQ4-Associated Hereditary Spastic Paraplegia. [PDF]

Mov Disord Clin Pract
Yu Z, Wang R, Yu S, Wang X.
europepmc   +1 more source

A Rare Homozygous AP4S1 Variant in Rwandan Siblings with Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52). [PDF]

Genes (Basel)
Niyoyita S, Uwibambe E, Ndinkabandi J, Sesonga P, Niyongere JB, Tuyishimire B, Urugwiro A, Rwamatwara A, Isingizwe G, Mutamuliza J, Nsanzabaganwa C, Bukuru J, Rutagarama F, Mukaruziga A, Karangwa O, Ndatinya A, Nsanzabera M, Dukuze N, Mutesa L.   +18 more
europepmc   +1 more source

Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. [PDF]

Mov Disord Clin Pract
Schierbaum L, Quiroz V, Tam A, Zubair U, Tochen L, Srouji R, Yang K, Ebrahimi-Fakhari D.   +7 more
europepmc   +1 more source