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1.
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
Cerebellum
; 2024 May 18.
Article
in English
| MEDLINE | ID: mdl-38760634
2.
ACBD5-related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.
Am J Med Genet A
; 194(2): 346-350, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37789430
3.
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Am J Med Genet A
; 188(7): 2226-2230, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35393742
4.
SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies.
Mov Disord
; 39(3): 457-461, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38525586
5.
Genetic Testing of Movements Disorders: A Review of Clinical Utility.
Tremor Other Hyperkinet Mov (N Y)
; 14: 2, 2024.
Article
in English
| MEDLINE | ID: mdl-38222898
6.
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Parkinsonism Relat Disord
; 124: 107010, 2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38772265
7.
Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.
Genes (Basel)
; 14(9)2023 09 03.
Article
in English
| MEDLINE | ID: mdl-37761896
8.
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.
Pediatr Cardiol
; 33(5): 827-30, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22374380
9.
Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia.
Parkinsonism Relat Disord
; 119: 105969, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38155044
10.
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
Mov Disord Clin Pract
; 11(5): 582-585, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38497520
11.
Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.
Am J Med Genet A
; 155A(12): 3139-43, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22065603
12.
Safe and correct use of peripheral intravenous devices.
ANZ J Surg
; 83(10): 764-8, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23035825
13.
Novel clinical features in pontine tegmental cap dysplasia.
Pediatr Neurol
; 46(6): 393-6, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22633637
14.
Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.
Pediatr Neurol
; 45(3): 185-8, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21824568
15.
Endovascular treatment for acute ischemic stroke: experience in South Australia.
Int J Stroke
; 10(6): E64-5, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26202716
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