Detalhe da pesquisa
1.
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
J Neurol Neurosurg Psychiatry
; 87(1): 5-11, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25783438
2.
Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.
Eur J Neurol
; 23(6): 1020-7, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26822221
3.
Muscle MRI in female carriers of dystrophinopathy.
Eur J Neurol
; 19(9): 1256-60, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22583668
4.
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.
J Neurol
; 269(3): 1413-1421, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34259909
5.
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
J Neurol
; 269(12): 6555-6565, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35980466
6.
Mitochondrial neuropathy: considerations on pathogenesis.
Eur J Neurol
; 23(8): e55, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27431029
7.
Nutritional support in mitochondrial diseases: the state of the art.
Eur Rev Med Pharmacol Sci
; 22(13): 4288-4298, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30024619
8.
Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.
J Clin Invest
; 103(5): 675-82, 1999 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-10074484
9.
Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency.
J Clin Invest
; 84(1): 155-61, 1989 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-2544623
10.
Recurrent miller fisher: a new case report and a literature review.
Clin Ter
; 168(3): e208-e213, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28612899
11.
Revisiting mitochondrial ocular myopathies: a study from the Italian Network.
J Neurol
; 264(8): 1777-1784, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28695364
12.
Retroviral vector-mediated gene transfer into human primary myogenic cells leads to expression in muscle fibers in vivo.
Hum Gene Ther
; 4(6): 713-23, 1993 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-8186286
13.
Disorders associated with depletion of mitochondrial DNA.
Brain Pathol
; 2(2): 141-7, 1992 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-1341955
14.
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.
Eur J Hum Genet
; 8(10): 809-12, 2000 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-11039585
15.
Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy.
FEBS Lett
; 418(1-2): 167-70, 1997 Nov 24.
Artigo
Inglês
| MEDLINE | ID: mdl-9414119
16.
X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia.
Arch Neurol
; 47(10): 1117-20, 1990 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-2222245
17.
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.
Arch Neurol
; 43(11): 1198-202, 1986 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-3022695
18.
Late-onset muscle phosphofructokinase deficiency.
Neurology
; 38(6): 956-60, 1988 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-2966901
19.
Benign reversible muscle cytochrome c oxidase deficiency: a second case.
Neurology
; 37(1): 64-7, 1987 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-3025776
20.
Apoptotic features accompany acute quadriplegic myopathy.
Neurology
; 55(6): 854-8, 2000 Sep 26.
Artigo
Inglês
| MEDLINE | ID: mdl-10994008