Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

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Review article

Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth

J. Bercianoa,

Corresponding author

jaberciano@humv.es

Corresponding author.

, T. Sevillab, C. Casasnovasc, R. Siverab, J.J. Vílchezb, J. Infantea, C. Ramónd, A.L. Pelayo-Negroa, I. Illae, Programme 3 (Neuromuscular Diseases), Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III

a Servicio de Neurología, Hospital Universitario Marqués de Valdecilla (IFIMAV), Universidad de Cantabria, CIBERNED, Santander, Spain

b Servicio de Neurología, Hospital Universitari la Fe, CIBERNED, Valencia, Spain

c Servicio de Neurología, Centre per el Diagnóstic Genètic i Molecular de Malalties Hereditaries, Institut de Investigacions Biomèdiques de Bellvitge (IDIBELL), Barcelona, Spain

d Servicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain

e Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, CIBERNED, Barcelona, Spain

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ISSN: 21735808
Original language: English

DOI:10.1016/j.nrleng.2012.04.006

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2025 12	704	74	778
2025 11	543	49	592
2025 10	299	51	350
2025 9	277	44	321
2025 8	217	33	250
2025 7	241	18	259
2025 6	213	15	228
2025 5	239	8	247
2025 4	209	5	214
2025 3	183	13	196
2025 2	113	18	131
2025 1	110	8	118
2024 12	137	10	147
2024 11	100	21	121
2024 10	67	11	78
2024 9	127	7	134
2024 8	77	5	82
2024 7	103	13	116
2024 6	73	6	79
2024 5	78	13	91
2024 4	102	12	114
2024 3	113	16	129
2024 2	97	16	113
2024 1	109	21	130
2023 12	96	13	109
2023 11	122	38	160
2023 10	128	13	141
2023 9	90	16	106
2023 8	66	15	81
2023 7	92	19	111
2023 6	93	17	110
2023 5	98	24	122
2023 4	88	24	112
2023 3	97	45	142
2023 2	78	32	110
2023 1	82	23	105
2022 12	85	26	111
2022 11	108	27	135
2022 10	86	22	108
2022 9	118	36	154
2022 8	104	52	156
2022 7	69	30	99
2022 6	76	25	101
2022 5	67	26	93
2022 4	131	25	156
2022 3	147	32	179
2022 2	145	19	164
2022 1	229	34	263
2021 12	114	18	132
2021 11	136	36	172
2021 10	153	24	177
2021 9	127	30	157
2021 8	160	24	184
2021 7	61	19	80
2021 6	66	23	89
2021 5	119	15	134
2021 4	244	41	285
2021 3	164	23	187
2021 2	67	20	87
2021 1	111	18	129
2020 12	111	16	127
2020 11	101	18	119
2020 10	64	7	71
2020 9	72	17	89
2020 8	77	22	99
2020 7	62	18	80
2020 6	79	21	100
2020 5	169	19	188
2020 4	71	17	88
2020 3	115	8	123
2020 2	102	23	125
2020 1	106	13	119
2019 12	155	22	177
2019 11	97	13	110
2019 10	89	15	104
2019 9	94	27	121
2019 8	104	28	132
2019 7	92	29	121
2019 6	184	23	207
2019 5	334	16	350
2019 4	151	22	173
2019 3	69	20	89
2019 2	78	26	104
2019 1	71	37	108
2018 12	52	24	76
2018 11	91	17	108
2018 10	124	15	139
2018 9	114	12	126
2018 8	36	5	41
2018 7	62	3	65
2018 6	42	5	47
2018 5	46	14	60
2018 4	154	5	159
2018 3	100	6	106
2018 2	52	9	61
2018 1	69	4	73
2017 12	63	2	65
2017 11	68	2	70
2017 10	71	6	77
2017 9	63	10	73
2017 8	74	8	82
2017 7	64	5	69
2017 6	100	25	125
2017 5	105	18	123
2017 4	79	4	83
2017 3	90	27	117
2017 2	171	6	177
2017 1	72	7	79
2016 12	99	15	114
2016 11	135	14	149
2016 10	144	10	154
2016 9	204	18	222
2016 8	161	15	176
2016 7	76	11	87
2016 6	70	18	88
2016 5	48	29	77
2016 4	61	24	85
2016 3	74	38	112
2016 2	71	24	95
2016 1	54	23	77
2015 12	49	21	70
2015 11	52	20	72
2015 10	130	25	155
2015 9	34	15	49
2015 8	67	13	80
2015 7	66	15	81
2015 6	39	5	44
2015 5	76	14	90
2015 4	66	26	92
2015 3	52	25	77
2015 2	32	15	47
2015 1	36	20	56
2014 12	54	12	66
2014 11	33	12	45
2014 10	61	10	71
2014 9	61	7	68
2014 8	64	12	76
2014 7	57	7	64
2014 6	38	11	49
2014 5	31	6	37
2014 4	31	7	38
2014 3	28	13	41
2014 2	34	14	48
2014 1	29	10	39
2013 12	23	8	31
2013 11	44	15	59
2013 10	94	16	110
2013 9	108	21	129
2013 8	74	27	101
2013 7	37	13	50

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