Results 181 to 190 of about 781,361 (246)

Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report. [PDF]

J Med Case Rep
Ahmed KAHM, Ahmed RKY.
europepmc   +1 more source

A Case of Meige Syndrome in a Pediatric Patient With Schizophrenia. [PDF]

Clin Case Rep
Mizobuchi K, Tanii H, Kanai K.
europepmc   +1 more source

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Roy S, Arora C, Holla VV, Prasad S, Phulpagar P, Kamble N, Muthusamy B, Saini J, Yadav R, Pal PK.   +9 more
europepmc   +1 more source

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity. [PDF]

Front Med (Lausanne)
Wang H, Xing W.
europepmc   +1 more source

Intervention effects of different brands of botulinum toxin type A on Meige syndrome with anxiety symptoms. [PDF]

Front Neurol
Tang Y, Liu R.
europepmc   +1 more source

Neuropathy-predominant and hyperkinetic-dystonic presentations in two siblings with a homozygous VPS13A variant: long-term follow-up and family-based clinical analysis. [PDF]

BMC Neurol
Luo Y, Chen J, Ling T, Ni X, Xue Y, Luo Y.   +5 more
europepmc   +1 more source

SET Domain Genes in Neurodevelopmental Disorders. [PDF]

Genes (Basel)
Ohguri A, Nakagawa T, Nakagawa M, Hosoi T.   +3 more
europepmc   +1 more source

Prospective Study of Botulinum Toxin Effects on Nonmotor Symptoms and Quality of Life in Thai Patients With Craniocervical Dystonia. [PDF]

J Clin Neurol
Wijittongruang C, Lolekha P.
europepmc   +1 more source

Update on Genetic Chorea. [PDF]

Curr Neurol Neurosci Rep
Ostrozovicova M, Skorvanek M.
europepmc   +1 more source