Results 121 to 130 of about 10,122 (170)

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation. [PDF]

J Clin Med
Kokaly N, Guerreiro H, Bredow J, Dreha-Kulaczewski S, Ohlenbusch A, Köhler W, Reinhardt T, Schön G, Volk AE, Sigel H, Bley A.   +10 more
europepmc   +1 more source

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report". [PDF]

Tremor Other Hyperkinet Mov (N Y)
Sánchez-Román EJ, Villa-Villegas L, Leal-Ortega R, Lira-Jaime LG, Rivas-Ruvalcaba F, Díaz-Ramírez K, Piña-Avilés CE, Mercado-Pimentel R, Zúñiga-Ramírez C.   +8 more
europepmc   +1 more source

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. [PDF]

Neurology
Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F.   +30 more
europepmc   +1 more source

"Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy. [PDF]

Mov Disord Clin Pract
Marsili L, Kauffman MA, Talavera de la Esperanza B, Yu Z, Gilbert DL, Espay AJ.   +5 more
europepmc   +1 more source

Caregiver-reported disease burden in Krabbe disease: evaluating outcomes of hematopoietic stem cell transplantation. [PDF]

Orphanet J Rare Dis
Bascou NA, Jackson S, Engel P, Melchior A, Orchard P, Pike-Langenfeld S.   +5 more
europepmc   +1 more source

Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy. [PDF]

Brain Commun
Yska HAF, Stellingwerff MD, Roosendaal SD, Voermans MMC, van der Knaap MS, Pouwels PJW, Engelen M.   +6 more
europepmc   +1 more source

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report. [PDF]

Ital J Pediatr
Florio CA, Mirabella F, Prato A, Longhitano A, Barone R, Rizzo R.   +5 more
europepmc   +1 more source

Confirmation of biallelic <i>VPS11</i> variants as a cause of complex dystonic syndrome. [PDF]

Clin Park Relat Disord
Storck A, Abiwarde MT, Hardy G, Lebre AS, Scheidecker S, Antal MC, Anheim M, Wirth T.   +7 more
europepmc   +1 more source