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Abbreviation : HMSN
Long Form : hereditary motor and sensory neuropathy
No. Year Title Co-occurring Abbreviation
2022 Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population. CMT, NCV
2021 Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents. BMD, CNS, GSD2, ID, NMDs, SMA
2021 Impact of Customized and Sustained Physiotherapy in Charcot-Marie-Tooth Disease. CMT, EMG, NCV
2021 Metabolic and biophysical study of the MFN2Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN). CMT, MD, WES
2021 The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. CMT, MLPA, NGS, VUS
2020 Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease. CMT
2019 Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family. CMT
2019 HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. ---
2019 [Therapeutic perspective in hereditary polyneuropathies]. CMT
10  2018 BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy. HSP
11  2018 SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. ---
12  2017 Evaluation of activities of daily living in patients with slowly progressive neuromuscular diseases. FSHD, LGMD
13  2017 Massive Oculomotor Nerve Enlargement: A Case of Presumed Schwannomatosis. CIDP, MRI, NF, PNSTs
14  2017 Practically applicable nerve ultrasound models for the diagnosis of axonal and demyelinating hereditary motor and sensory neuropathies (HMSN). NCS, PNP, ROC, US
15  2017 Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A). CMT, CMT, CMT 1A
16  2016 Diagnostic accuracy of nerve ultrasound in hereditary and sporadic non-entrapment neuropathies. NCS, NSS, PNP, ROC, US
17  2016 Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. NGS, WARBM
18  2015 Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats. CMT1A, HNPP
19  2015 Charcot-Marie-Tooth type 1A disease from patient to laboratory. CMT, NT-3
20  2015 Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs. CMT, MRI, NEFL
21  2015 Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology. ---
22  2015 [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)]. CMT, dHMN, HMN, HSAN
23  2014 Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. CMT
24  2014 Dynamic transcriptional events in distal sural nerve revealed by transcriptome analysis. ---
25  2014 Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update. CMT
26  2014 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. SMA
27  2014 [MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic]. BR, MFN2
28  2013 Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. AR-CMT, CMT
29  2013 Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position. Cx32
30  2013 Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient. CMT
31  2012 Charcot-Marie-Tooth disease and intracellular traffic. CMT
32  2012 Effect of functional stabilization training on balance and motor patterns in a patient with Charcot-Marie-Tooth disease. ADL, CMT
33  2012 Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. CMT
34  2012 MRI in hypertrophic mono- and polyneuropathies. CIDP, MRI, NF
35  2012 The role of auditory brainstem response in diagnosing auditory impairments of Dejerine-Sottas. ABRs, NCV, OAEs
36  2012 [The rate of free-radical oxidation in hereditary motor-sensor neuropathies and myotonic dystrophy]. MD
37  2011 Inherited neuropathies. AA, AFO, CMT
38  2011 [Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]. ---
39  2010 Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies. ChGn-1, CSPGs
40  2010 Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations. CMT, MPZ
41  2010 [Novel mutation in X-linked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)]. BAEP, Cx32
42  2010 [Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease]. CMT
43  2009 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. ---
44  2009 Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. ACC
45  2009 Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: a systematic review. FSHD, MD, NMD
46  2009 Diagnosis of Charcot-Marie-Tooth disease. CMT
47  2009 Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. CMT2, Mfn2
48  2009 Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. LITAF
49  2009 Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0). CHN, CMT, DSS, PMP22
50  2009 [Wide spectrum of hereditary motor sensory neuropathy (HMSN)]. CMT, FAP, HMN, HMSN-P
51  2008 [Charcot-Marie-Tooth disease]. CMT, CMT1, NT-3, PMP22
52  2008 [Diagnosis of the peripheral hereditary neuropathies and its molecular genetics]. CMT
53  2007 Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution. CMT
54  2007 Manual dexterity and related functional limitations in hereditary motor and sensory neuropathy. An explorative study. DASH, RAP
55  2007 Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. CMT, MPZ
56  2007 The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. CMT, SH3TC2
57  2006 Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. CMT, SBF2
58  2006 Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies). CMT, PMP
59  2006 Experienced and physiological fatigue in neuromuscular disorders. CAF, DM, FSHD
60  2006 Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. FSHD, MD
61  2005 Foot deformities in children with hereditary motor and sensory neuropathy. ---
62  2005 Hereditary motor and sensor neuropathy: a cause of acute stridor. ---
63  2005 Mental retardation in a boy with anterior cervical hypertrichosis. ACH
64  2005 [Hereditary motor and sensory neuropathy (HMSN) with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions]. ---
65  2004 Distal spinal muscular atrophy. SMA
66  2004 Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). CMT1
67  2004 Subclinical cranial nerve involvement in hereditary motor and sensory neuropathy: a combined conduction study with electrical and magnetic stimulation. HMSN I, HMSN II
68  2004 [A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy]. CMAP, CPS, TLE
69  2003 Bilateral sudden sensorineural hearing loss caused by Charcot-Marie-Tooth disease. CMT, SNHL
70  2003 Electrodiagnostic evaluation of hereditary motor and sensory neuropathies. ---
71  2003 Hip dysplasia in Charcot-Marie-Tooth disease: report of a family. ---
72  2003 Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. GEF, NCVs, RhoGTPases
73  2002 Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0. ---
74  2002 Hand strength and fatigue in patients with hereditary motor and sensory neuropathy (types I and II). CI, ICC, PFgrip
75  2002 Hypertrophic nerve roots in a case of Roussy-Levy syndrome. ---
76  2002 Superior mesenteric artery syndrome associated with hereditary motor and sensory neuropathy type II--a case report. SMA
77  2001 Cavovarus foot treated with combined calcaneus and metatarsal osteotomies. AFO
78  2001 Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. CMT, NfL
79  2001 Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. BAEP, CMT, Cx32, GJB1, PMP22
80  2001 Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN-ADM). ---
81  2001 Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease. CMT
82  2001 Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement. ---
83  2001 Orthotic management of the lower limb in children with hereditary motor sensory neuropathy (HMSN). ---
84  2001 Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings. ---
85  2001 Phrenic nerve conduction and diaphragmatic motor evoked potentials: evaluation of respiratory dysfunction. COPD, DCAP, GBS, MEPs, MG, MTS, PNC, RDF, SAS
86  2001 [The role of molecular genetics in diagnosis of hereditary motor-sensory neuropathy]. FISH, HD, SQ-PCR, SSCP, STR
87  2000 Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity. ---
88  2000 Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy. BAEP, CM, NCV
89  2000 Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy. BAEP, CM, NCV
90  2000 Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma. ---
91  2000 MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. CMT, DSD
92  2000 Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. MPZ
93  2000 The extracellular matrix of peripheral nerve in diabetic polyneuropathy. ---
94  2000 Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. CMT2B, HSN
95  1999 A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. CMT1
96  1999 Autonomic function in patients with hereditary motor and sensory neuropathy type I and Lambert-Eaton myasthenic syndrome. LEMS
97  1999 Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. HSP
98  1999 Charcot Foot. ---
99  1999 Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration. CMT1
100  1999 Developmental hip dysplasia in hereditary motor and sensory neuropathy type 1. ---