Detalhe da pesquisa
1.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
; 37(12): 2440-2446, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36103453
2.
Primary lateral sclerosis: consensus diagnostic criteria.
J Neurol Neurosurg Psychiatry
; 91(4): 373-377, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32029539
3.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25065914
4.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet
; 52(2): 85-94, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25480986
5.
Hereditary spastic paraplegia: clinical principles and genetic advances.
Semin Neurol
; 34(3): 293-305, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25192507
6.
Further studies toward a mouse model for biochemical assessment of neuropathic potential of organophosphorus compounds.
J Appl Toxicol
; 34(12): 1426-35, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24395470
7.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Hum Mutat
; 34(10): 1357-60, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23857908
8.
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Acta Neuropathol
; 126(3): 307-28, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23897027
9.
The hereditary spastic paraplegias.
Handb Clin Neurol
; 196: 59-88, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37620092
10.
Call for participation in the neurogenetics consortium within the Human Variome Project.
Neurogenetics
; 12(3): 169-73, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21630033
11.
Neuropathy target esterase gene mutations cause motor neuron disease.
Am J Hum Genet
; 82(3): 780-5, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18313024
12.
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.
Muscle Nerve
; 43(1): 19-25, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21171093
13.
Hereditary Myelopathies.
Continuum (Minneap Minn)
; 27(1): 185-204, 2021 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33522742
14.
An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome.
Case Rep Neurol
; 12(2): 165-168, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32595478
15.
Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN).
Adv Neurotoxicol
; 4: 1-78, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32518884
16.
The clinical spectrum of primary lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 21(sup1): 3-10, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33602013
17.
Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.
J Neurogenet
; 22(4): 289-94, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-19085270
18.
Rare treatable neurologic diseases.
Semin Neurol
; 32(5): 489-90, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23677655
19.
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.
Arch Neurol
; 63(3): 445-7, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16533974
20.
Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.
Arch Neurol
; 63(4): 521-7, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16606763