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1.
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Neurol Sci
; 43(4): 2849-2852, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35066644
2.
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Hum Mutat
; 38(12): 1761-1773, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28895244
3.
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Cells
; 13(4)2024 Feb 10.
Article
in English
| MEDLINE | ID: mdl-38391941
4.
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Neurol Sci
; 37(5): 805-7, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26700800
5.
Amyloid Arthropathy: When the Rheumatologist Meets the Hematologist.
J Clin Rheumatol
; 22(5): 285-6, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-27464780
6.
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.
Mov Disord
; 28(12): 1751-2, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23630171
7.
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.
Anesthesiology
; 109(4): 625-8, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-18813041
8.
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.
Brain Dev
; 30(4): 291-4, 2008 Apr.
Article
in English
| MEDLINE | ID: mdl-17768021
9.
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
Neuromuscul Disord
; 17(9-10): 681-3, 2007 Oct.
Article
in English
| MEDLINE | ID: mdl-17614276
10.
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia.
J Neurol Sci
; 221(1-2): 105-8, 2004 Jun 15.
Article
in English
| MEDLINE | ID: mdl-15178223
11.
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
Eur J Hum Genet
; 17(8): 1092-6, 2009 Aug.
Article
in English
| MEDLINE | ID: mdl-19223931
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