314 related articles for article (PubMed ID: 16788010)
1. Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study.
Berciano J; Gallardo E; García A; Infante J; Mateo I; Combarros O
J Neurol Neurosurg Psychiatry; 2006 Oct; 77(10):1169-76. PubMed ID: 16788010
[TBL] [Abstract][Full Text] [Related]
2. Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family.
Berciano J; Gallardo E; García A; Ramón C; Infante J; Combarros O
J Neurol; 2010 Oct; 257(10):1633-41. PubMed ID: 20443018
[TBL] [Abstract][Full Text] [Related]
3. Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles.
Gallardo E; García A; Combarros O; Berciano J
Brain; 2006 Feb; 129(Pt 2):426-37. PubMed ID: 16317020
[TBL] [Abstract][Full Text] [Related]
4. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
Berciano J; Gallardo E; Domínguez-Perles R; Gallardo E; García A; García-Barredo R; Combarros O; Infante J; Illa I
J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502
[TBL] [Abstract][Full Text] [Related]
5. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
Berciano J; Peeters K; García A; López-Alburquerque T; Gallardo E; Hernández-Fabián A; Pelayo-Negro AL; De Vriendt E; Infante J; Jordanova A
J Neurol; 2016 Feb; 263(2):361-369. PubMed ID: 26645395
[TBL] [Abstract][Full Text] [Related]
6. Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.
Chung KW; Suh BC; Shy ME; Cho SY; Yoo JH; Park SW; Moon H; Park KD; Choi KG; Kim S; Kim SB; Shim DS; Kim SM; Sunwoo IN; Choi BO
Neuromuscul Disord; 2008 Aug; 18(8):610-8. PubMed ID: 18602827
[TBL] [Abstract][Full Text] [Related]
7. Patterns of muscle atrophy in the lower limbs in patients with Charcot-Marie-Tooth disease as measured by magnetic resonance imaging.
Stilwell G; Kilcoyne RF; Sherman JL
J Foot Ankle Surg; 1995; 34(6):583-6; discussion 596. PubMed ID: 8646212
[TBL] [Abstract][Full Text] [Related]
8. Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
Schreiber O; Schneiderat P; Kress W; Rautenstrauss B; Senderek J; Schoser B; Walter MC
BMC Med Genet; 2013 Sep; 14():92. PubMed ID: 24041033
[TBL] [Abstract][Full Text] [Related]
9. Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
Gallardo E; Claeys KG; Nelis E; García A; Canga A; Combarros O; Timmerman V; De Jonghe P; Berciano J
J Neurol; 2008 Jul; 255(7):986-92. PubMed ID: 18560793
[TBL] [Abstract][Full Text] [Related]
10. MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.
Gaeta M; Mileto A; Mazzeo A; Minutoli F; Di Leo R; Settineri N; Donato R; Ascenti G; Blandino A
Skeletal Radiol; 2012 May; 41(5):515-24. PubMed ID: 21611841
[TBL] [Abstract][Full Text] [Related]
11. NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
Berciano J; García A; Peeters K; Gallardo E; De Vriendt E; Pelayo-Negro AL; Infante J; Jordanova A
J Neurol; 2015 May; 262(5):1289-300. PubMed ID: 25877835
[TBL] [Abstract][Full Text] [Related]
12. Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study.
Pelayo-Negro AL; Gallardo E; García A; Sánchez-Juan P; Infante J; Berciano J
J Neurol; 2014 Apr; 261(4):675-85. PubMed ID: 24449066
[TBL] [Abstract][Full Text] [Related]
13. Fat fraction distribution in lower limb muscles of patients with CMT1A: A quantitative MRI study.
Bas J; Ogier AC; Le Troter A; Delmont E; Leporq B; Pini L; Guye M; Parlanti A; Lefebvre MN; Bendahan D; Attarian S
Neurology; 2020 Apr; 94(14):e1480-e1487. PubMed ID: 31980579
[TBL] [Abstract][Full Text] [Related]
14. Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.
Berciano J; García A; Gallardo E; Ramón C; Combarros O
Adv Exp Med Biol; 2009; 652():183-200. PubMed ID: 20225026
[TBL] [Abstract][Full Text] [Related]
15. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study.
Morrow JM; Sinclair CD; Fischmann A; Machado PM; Reilly MM; Yousry TA; Thornton JS; Hanna MG
Lancet Neurol; 2016 Jan; 15(1):65-77. PubMed ID: 26549782
[TBL] [Abstract][Full Text] [Related]
16. Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.
Gallardo E; García A; Ramón C; Maraví E; Infante J; Gastón I; Alonso Á; Combarros O; De Jonghe P; Berciano J
J Neurol; 2009 Dec; 256(12):2061-71. PubMed ID: 19629567
[TBL] [Abstract][Full Text] [Related]
17. Clinical predominance of proximal upper limb weakness in CMT1A syndrome.
Auer-Grumbach M; Wagner K; Strasser-Fuchs S; Löscher WN; Fazekas F; Millner M; Hartung HP
Muscle Nerve; 2000 Aug; 23(8):1243-9. PubMed ID: 10918262
[TBL] [Abstract][Full Text] [Related]
18. [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].
Yao L; Li M; Liu L; Fan Z; Jia Y; Wang J; Du F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):443-449. PubMed ID: 38565510
[TBL] [Abstract][Full Text] [Related]
19. [Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].
Yamamoto M; Sobue G; Yasuda T; Yamamoto K; Kumazawa K; Mitsuma T
Rinsho Shinkeigaku; 1995 Oct; 35(10):1085-91. PubMed ID: 8821490
[TBL] [Abstract][Full Text] [Related]
20. Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with charcot-marie-tooth disease 1A duplication.
Berciano J; García A; Calleja J; Combarros O
Neuromuscul Disord; 2000 Aug; 10(6):419-24. PubMed ID: 10899448
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
