Detalhe da pesquisa
1.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
2.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Ann Neurol
; 79(4): 646-58, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26856398
3.
Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Brain
; 142(4): e13, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847463
4.
High-Resolution Ultrasound as a Powerful Diagnostic Tool in Peripheral Nerve Lesions: Detection of an Intraneural Ganglion Cyst in a Patient with Painful Subacute Peroneal Nerve Palsy.
Ultraschall Med
; 41(1): 77-79, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31476785
5.
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
Brain
; 141(1): e2, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236946
6.
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Brain
; 138(Pt 9): e376, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25681414
7.
Primary CNS lymphoma in the elderly: temozolomide therapy and MGMT status.
J Neurooncol
; 97(3): 389-92, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19841864
8.
Genetic variants of folate and methionine metabolism and PCNSL incidence in a German patient population.
J Neurooncol
; 100(2): 187-92, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20237949
9.
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Neurology
; 92(23): e2679-e2690, 2019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31068484
10.
Pharmacological and electrophysiological properties of the naturally occurring Pro391Arg variant of the human 5-HT3A receptor.
Pharmacogenetics
; 14(3): 165-72, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15167704
11.
Primary CNS lymphoma and HLA class I and II alleles in a German cohort of immunocompetent patients.
J Neurooncol
; 90(1): 53-5, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18587537