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Items: 1 to 50 of 244

1.

Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study.

Mori L, Signori A, Prada V, Pareyson D, Piscosquito G, Padua L, Pazzaglia C, Fabrizi GM, Picelli A, Schenone A; TreSPE study group.

Eur J Neurol. 2019 Aug 24. doi: 10.1111/ene.14074. [Epub ahead of print]

PMID:
31444929
2.

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.

Fenu S, Castellotti B, Farina L, Cavallaro T, Di Bella D, Benzoni C, Gellera C, Pareyson D, Taroni F, Salsano E.

Neurology. 2019 Aug 13;93(7):310-312. doi: 10.1212/WNL.0000000000007951. Epub 2019 Jul 9. No abstract available.

PMID:
31289144
3.

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Callegari I, Gemelli C, Geroldi A, Veneri F, Mandich P, D'Antonio M, Pareyson D, Shy ME, Schenone A, Prada V, Grandis M.

J Neurol. 2019 Jul 5. doi: 10.1007/s00415-019-09453-3. [Epub ahead of print]

PMID:
31278453
4.

Expanding the spectrum of genes responsible for hereditary motor neuropathies.

Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A.

J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179. doi: 10.1136/jnnp-2019-320717. Epub 2019 Jun 5.

PMID:
31167812
5.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
6.

Neuropsychological features of adult form of Alexander disease.

Draghi L, Salsano E, Farina L, Di Bella D, Fenu S, Pareyson D, Taroni F, Piacentini SHMJ.

J Neurol Sci. 2019 Jun 15;401:87-89. doi: 10.1016/j.jns.2019.04.030. Epub 2019 Apr 23. No abstract available.

PMID:
31039531
7.

Balance impairment in pediatric charcot-marie-tooth disease.

Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP.

Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.

PMID:
31026080
8.

Hereditary neuropathy with liability to pressure palsies.

Attarian S, Fatehi F, Rajabally YA, Pareyson D.

J Neurol. 2019 Apr 15. doi: 10.1007/s00415-019-09319-8. [Epub ahead of print] Review.

PMID:
30989370
9.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

10.

Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.

Politi LS, Castellano A, Papinutto N, Mauro E, Pareyson D, Henry RG, Falini A, Salsano E.

Eur J Neurol. 2019 Oct;26(10):1341-1344. doi: 10.1111/ene.13959. Epub 2019 May 2.

PMID:
30932272
11.

Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study.

Pazzaglia C, Padua L, Pareyson D, Schenone A, Aiello A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Coraci D, Gemignani F, Vitetta F, Quattrone A, Mazzeo A, Russo M, Vita G; CMT-TRIAAL Group.

Neuromuscul Disord. 2019 Apr;29(4):310-316. doi: 10.1016/j.nmd.2019.01.009. Epub 2019 Feb 2.

PMID:
30926199
12.

Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature.

Caputi L, Erbetta A, Marucci G, Pareyson D, Eoli M, Servida M, Parati E, Salsano E.

J Clin Neurosci. 2019 Jun;64:42-44. doi: 10.1016/j.jocn.2019.03.021. Epub 2019 Mar 22. Review.

PMID:
30910547
13.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.

PMID:
30706531
14.

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2019 Apr 1;142(4):e14. doi: 10.1093/brain/awy332. No abstract available.

15.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. Erratum in: Brain. 2019 Apr 1;142(4):e14.

PMID:
30476010
16.

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.

Ambrosini A, Calabrese D, Avato FM, Catania F, Cavaletti G, Pera MC, Toscano A, Vita G, Monaco L, Pareyson D.

Orphanet J Rare Dis. 2018 Oct 4;13(1):176. doi: 10.1186/s13023-018-0918-z.

17.

Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects.

Mori L, Prada V, Signori A, Pareyson D, Piscosquito G, Padua L, Pazzaglia C, Fabrizi GM, Smania N, Picelli A, Schenone A; TreSPE Study Group.

Eur J Phys Rehabil Med. 2019 Feb;55(1):47-55. doi: 10.23736/S1973-9087.18.05111-0. Epub 2018 Jun 11.

18.

Electromyographic and biomechanical analysis of step negotiation in Charcot Marie Tooth subjects whose level walk is not impaired.

Lencioni T, Piscosquito G, Rabuffetti M, Sipio ED, Diverio M, Moroni I, Padua L, Pagliano E, Schenone A, Pareyson D, Ferrarin M.

Gait Posture. 2018 May;62:497-504. doi: 10.1016/j.gaitpost.2018.04.014. Epub 2018 Apr 13.

PMID:
29679921
19.

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15.

PMID:
29449460
20.

Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease.

Pareyson D, Shy ME.

Neurology. 2018 Feb 6;90(6):257-259. doi: 10.1212/WNL.0000000000004936. Epub 2018 Jan 10. No abstract available.

PMID:
29321227
21.

Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease.

Chiapparini L, Cavalli G, Langella T, Venerando A, De Luca G, Raspante S, Marotta G, Pollo B, Lauria G, Cangi MG, Gerevini S, Botturi A, Pareyson D, Dagna L, Salsano E.

J Neurol. 2018 Feb;265(2):273-284. doi: 10.1007/s00415-017-8692-8. Epub 2017 Dec 4.

PMID:
29204962
22.

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10-12 June 2016, Naarden, The Netherlands.

Reilly MM, Pareyson D, Burns J, Laurá M, Shy ME, Singh D; ENMC CMT Foot Surgery Study Group.

Neuromuscul Disord. 2017 Dec;27(12):1138-1142. doi: 10.1016/j.nmd.2017.09.005. Epub 2017 Sep 21. No abstract available.

PMID:
29074294
23.

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Finsterer J, Mancuso M, Pareyson D, Burgunder JM, Klopstock T.

Mitochondrion. 2018 Sep;42:1-10. doi: 10.1016/j.mito.2017.10.003. Epub 2017 Oct 18. Review.

PMID:
29054473
24.

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.

Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2.

PMID:
29029362
25.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW.

J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.

PMID:
28860329
26.

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects.

Lencioni T, Piscosquito G, Rabuffetti M, Bovi G, Di Sipio E, Diverio M, Moroni I, Padua L, Pagliano E, Schenone A, Pareyson D, Ferrarin M.

Neuromuscul Disord. 2017 Nov;27(11):1029-1037. doi: 10.1016/j.nmd.2017.07.003. Epub 2017 Jul 14.

PMID:
28844614
27.

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.

Padua L, Coraci D, Lucchetta M, Paolasso I, Pazzaglia C, Granata G, Cacciavillani M, Luigetti M, Manganelli F, Pisciotta C, Piscosquito G, Pareyson D, Briani C.

Muscle Nerve. 2018 Jan;57(1):E18-E23. doi: 10.1002/mus.25766. Epub 2017 Aug 24.

PMID:
28802056
28.

Natural history of Charcot-Marie-Tooth disease during childhood.

Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group.

Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.

PMID:
28796392
29.

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.

Rossor AM, Carr AS, Devine H, Chandrashekar H, Pelayo-Negro AL, Pareyson D, Shy ME, Scherer SS, Reilly MM.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):846-863. doi: 10.1136/jnnp-2016-313960. Epub 2017 Aug 9. Review.

PMID:
28794150
30.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN).

Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2.

31.

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D.

Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):732-739. doi: 10.1002/ajmg.b.32570. Epub 2017 Aug 2.

PMID:
28766925
32.

Lack of benefit of acetyl-dl-leucine in patients with multiple system atrophy of the cerebellar type.

Scigliuolo GM, Sagnelli A, Brenna G, Pareyson D, Salsano E.

J Neurol Sci. 2017 Aug 15;379:12-13. doi: 10.1016/j.jns.2017.05.020. Epub 2017 May 11. No abstract available.

PMID:
28716222
33.

Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis.

Tosetti V, Sassone J, Ferri ALM, Taiana M, Bedini G, Nava S, Brenna G, Di Resta C, Pareyson D, Di Giulio AM, Carelli S, Parati EA, Gorio A.

PLoS One. 2017 Jul 12;12(7):e0180579. doi: 10.1371/journal.pone.0180579. eCollection 2017.

34.

New developments in Charcot-Marie-Tooth neuropathy and related diseases.

Pareyson D, Saveri P, Pisciotta C.

Curr Opin Neurol. 2017 Oct;30(5):471-480. doi: 10.1097/WCO.0000000000000474. Review.

PMID:
28678038
35.

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

Laurá M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium.

Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7.

36.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM.

Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10.

37.

Repeatability, consistency, and accuracy of hand-held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults.

Davis PR, McKay MJ, Baldwin JN, Burns J, Pareyson D, Rose KJ.

Muscle Nerve. 2017 Nov;56(5):896-900. doi: 10.1002/mus.25576. Epub 2017 May 30.

PMID:
28076880
38.

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

Piscosquito G, Magri S, Saveri P, Milani M, Ciano C, Farina L, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2017 Mar;22(1):47-50. doi: 10.1111/jns.12201.

PMID:
27982524
39.

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.

Sagnelli A, Piscosquito G, Di Bella D, Fadda L, Melzi L, Morico A, Ciano C, Taroni F, Facchetti D, Salsano E, Pareyson D.

J Peripher Nerv Syst. 2017 Mar;22(1):59-63. doi: 10.1111/jns.12200.

PMID:
27982499
40.

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

Querin G, DaRe E, Martinelli I, Bello L, Bertolin C, Pareyson D, Mariotti C, Pegoraro E, Sorarù G.

Neurol Sci. 2016 Nov;37(11):1815-1821. Epub 2016 Jul 21.

PMID:
27444956
41.

Nerve conduction velocity in CMT1A: what else can we tell?

Manganelli F, Pisciotta C, Reilly MM, Tozza S, Schenone A, Fabrizi GM, Cavallaro T, Vita G, Padua L, Gemignani F, Laurà M, Hughes RA, Solari A, Pareyson D, Santoro L; CMT-TRIAAL and CMT-TRAUK Group.

Eur J Neurol. 2016 Oct;23(10):1566-71. doi: 10.1111/ene.13079. Epub 2016 Jul 14.

42.

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

Corrado L, Magri S, Bagarotti A, Carecchio M, Piscosquito G, Pareyson D, Varrasi C, Vecchio D, Zonta A, Cantello R, Taroni F, D'Alfonso S.

Neuromuscul Disord. 2016 Aug;26(8):516-20. doi: 10.1016/j.nmd.2016.05.011. Epub 2016 May 24.

PMID:
27344971
43.

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination.

Cortese A, Devaux JJ, Zardini E, Manso C, Taieb G, Carra Dallière C, Merle P, Osera C, Romagnolo S, Visigalli N, Piscosquito G, Salsano E, Alfonsi E, Moglia A, Pareyson D, Marchioni E, Franciotta D.

Neurol Neuroimmunol Neuroinflamm. 2016 Jun 7;3(4):e238. doi: 10.1212/NXI.0000000000000238. eCollection 2016 Aug. No abstract available.

44.

Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP).

Cortese A, Piccolo G, Lozza A, Schreiber A, Callegari I, Moglia A, Alfonsi E, Pareyson D.

Neuromuscul Disord. 2016 Jul;26(7):455-8. doi: 10.1016/j.nmd.2016.05.007. Epub 2016 May 12.

PMID:
27241821
45.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175.

46.

Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.

Padua L, Pazzaglia C, Pareyson D, Schenone A, Aiello A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Gemignani F, Vitetta F, Quattrone A, Mazzeo A, Russo M, Vita G; CMT-TRIAAL Group.

Eur J Neurol. 2016 Aug;23(8):1343-50. doi: 10.1111/ene.13033. Epub 2016 May 10.

PMID:
27160471
47.

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.

Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P, Sorarù G.

Eur J Neurol. 2016 Jun;23(6):1134-6. doi: 10.1111/ene.13001.

PMID:
27141859
48.

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area.

Cortese A, Vita G, Luigetti M, Russo M, Bisogni G, Sabatelli M, Manganelli F, Santoro L, Cavallaro T, Fabrizi GM, Schenone A, Grandis M, Gemelli C, Mauro A, Pradotto LG, Gentile L, Stancanelli C, Lozza A, Perlini S, Piscosquito G, Calabrese D, Mazzeo A, Obici L, Pareyson D.

J Neurol. 2016 May;263(5):925-926. doi: 10.1007/s00415-016-8116-1. No abstract available.

PMID:
27098978
49.

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.

Castellano A, Papinutto N, Cadioli M, Brugnara G, Iadanza A, Scigliuolo G, Pareyson D, Uziel G, Köhler W, Aubourg P, Falini A, Henry RG, Politi LS, Salsano E.

Brain. 2016 Jun;139(Pt 6):1735-46. doi: 10.1093/brain/aww068. Epub 2016 Apr 11.

PMID:
27068048
50.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium.

JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.

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