Neuromuscular Disorders

0.6(top 50%)

impact factor

11.8K(top 2%)

papers

108.5K(top 5%)

citations

118(top 5%)

h-index

0.7(top 50%)

impact factor

13.9K

all documents

114.5K

doc citations

175(top 5%)

g-index

Top Articles

#	Title	Journal	Year	Citations
1	Population frequencies of inherited neuromuscular diseases—A world survey	Neuromuscular Disorders	1991	1,231
2	Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation	Neuromuscular Disorders	2002	810
3	Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care	Neuromuscular Disorders	2018	584
4	Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)	Neuromuscular Disorders	1991	570
5	Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics	Neuromuscular Disorders	2018	421
6	Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study	Neuromuscular Disorders	2019	401
7	A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy	Neuromuscular Disorders	2014	350
8	Rhabdomyolysis: Review of the literature	Neuromuscular Disorders	2014	345
9	Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse	Neuromuscular Disorders	2004	336
10	A motor function measure scale for neuromuscular diseases. Construction and validation study	Neuromuscular Disorders	2005	335
11	MELAS: An original case and clinical criteria for diagnosis	Neuromuscular Disorders	1992	330
12	Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade	Neuromuscular Disorders	2006	302
13	The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein	Neuromuscular Disorders	2007	286
14	188th ENMC International Workshop: Inclusion Body Myositis, 2–4 December 2011, Naarden, The Netherlands	Neuromuscular Disorders	2013	285
15	Diagnostic approach to the congenital muscular dystrophies	Neuromuscular Disorders	2014	275
16	Managing Duchenne muscular dystrophy – The additive effect of spinal surgery and home nocturnal ventilation in improving survival	Neuromuscular Disorders	2007	273
17	Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases	Neuromuscular Disorders	2018	273
18	Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry	Neuromuscular Disorders	2001	246
19	An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients	Neuromuscular Disorders	2007	245
20	Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle	Neuromuscular Disorders	1991	242
21	Myofibrillar myopathies	Neuromuscular Disorders	2011	241
22	The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability	Neuromuscular Disorders	2010	239
23	Approach to the diagnosis of congenital myopathies	Neuromuscular Disorders	2014	239
24	The congenital muscular dystrophies in 2004: a century of exciting progress	Neuromuscular Disorders	2004	235
25	Evolution of the mdx mouse cardiomyopathy: physiological and morphological findings	Neuromuscular Disorders	2004	234
26	A systematic review of diagnostic studies in myasthenia gravis	Neuromuscular Disorders	2006	232
27	Duchenne muscular dystrophy: Survival by cardio-respiratory interventions	Neuromuscular Disorders	2011	226
28	Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA	Neuromuscular Disorders	1993	219
29	Centronuclear myopathies: A widening concept	Neuromuscular Disorders	2010	218
30	Progressive myopathy with up-regulation of MHC-I associated with statin therapy	Neuromuscular Disorders	2007	217
31	Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia	Neuromuscular Disorders	2003	216
32	Hereditary muscular dystrophies and the heart	Neuromuscular Disorders	2010	215
33	Emery–Dreifuss muscular dystrophy – a 40 year retrospective	Neuromuscular Disorders	2000	210
34	Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy	Neuromuscular Disorders	2002	210
35	Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients	Neuromuscular Disorders	2007	208
36	Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia	Neuromuscular Disorders	2009	205
37	Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)	Neuromuscular Disorders	2003	198
38	Sexual differences in onset of disease and response to exercise in a transgenic model of ALS	Neuromuscular Disorders	2003	196
39	Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)	Neuromuscular Disorders	2003	192
40	Reduced necrosis of dystrophic muscle by depletion of host neutrophils, or blocking TNFα function with Etanercept in mdx mice	Neuromuscular Disorders	2006	192
41	Diagnostic criteria for facioscapulohumeral muscular dystrophy	Neuromuscular Disorders	1991	191
42	International SMA Collaboration	Neuromuscular Disorders	1991	190
43	Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides	Neuromuscular Disorders	1999	190
44	Fatal infantile neuromuscular presentation of glycogen storage disease type IV	Neuromuscular Disorders	2004	185
45	Muscle cells from mdx mice have an increased susceptibility to oxidative stress	Neuromuscular Disorders	1998	184
46	Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function	Neuromuscular Disorders	2002	180
47	The diagnosis of mitochondrial muscle disease	Neuromuscular Disorders	2004	178
48	Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)	Neuromuscular Disorders	2002	176
49	Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children	Neuromuscular Disorders	2000	174
50	Current status of the congenital myasthenic syndromes	Neuromuscular Disorders	2012	172

Scientometrics

Overviews

Citing Bodies

Neuromuscular Disorders

Top Articles