-
1
-
-
78751533625
-
Paediatric electromyography in the modern world: A personal view
-
Pitt M. Paediatric electromyography in the modern world: a personal view. Dev Med Child Neurol 2011; 53:120-124.
-
(2011)
Dev Med Child Neurol
, vol.53
, pp. 120-124
-
-
Pitt, M.1
-
2
-
-
84870392607
-
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study
-
Ciccolella M, Catteruccia M, Benedetti S, et al. Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study. Neuromuscul Disord 2012; 22:1075-1082.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 1075-1082
-
-
Ciccolella, M.1
Catteruccia, M.2
Benedetti, S.3
-
3
-
-
84873055299
-
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: Two novel mutations
-
Ciccolella M, Corti S, Catteruccia M, et al. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. J Med Genet 2013; 50:104-107.
-
(2013)
J Med Genet
, vol.50
, pp. 104-107
-
-
Ciccolella, M.1
Corti, S.2
Catteruccia, M.3
-
4
-
-
84867895629
-
The brown-vialetto-van laere and fazio londe syndrome revisited: Natural history, genetics, treatment and future perspectives
-
Bosch AM, Stroek K, Abeling NG, et al. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012; 7:83.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 83
-
-
Bosch, A.M.1
Stroek, K.2
Abeling, N.G.3
-
5
-
-
84867858847
-
Brown-Vialetto-Van Laere and Fazio Londe syndromes: Defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD)
-
Bennett MJ. Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD). J Inherit Metab Dis 2012; 35:941-942.
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 941-942
-
-
Bennett, M.J.1
-
6
-
-
84867855897
-
Impaired riboflavin transport due to missense mutations in slc52a2 causes brown-vialetto-van laere syndrome
-
Haack TB, Makowski C, Yao Y, et al. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis 2012; 35:943-948.
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 943-948
-
-
Haack, T.B.1
Makowski, C.2
Yao, Y.3
-
7
-
-
84861581224
-
Brown-Vialetto-Van Laere syndrome: A riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene
-
Koy A, Pillekamp F, Hoehn T, et al. Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. Pediatr Neurol 2012; 46:407-409.
-
(2012)
Pediatr Neurol
, vol.46
, pp. 407-409
-
-
Koy, A.1
Pillekamp, F.2
Hoehn, T.3
-
8
-
-
84863874490
-
Update on clinical aspects and treatment of selected vitaminresponsive disorders II (riboflavin and CoQ 10
-
Horvath R. Update on clinical aspects and treatment of selected vitaminresponsive disorders II (riboflavin and CoQ 10). J Inherit Metab Dis 2012;35:679-687.
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 679-687
-
-
Horvath, R.1
-
9
-
-
84858278218
-
Brown-vialetto-van laere syndrome and fazio-londe disease-treatable motor neuron diseases of childhood
-
Spagnoli C, de Sousa C. Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease-treatable motor neuron diseases of childhood. Dev Med Child Neurol 2012; 54:292-293.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 292-293
-
-
Spagnoli, C.1
De Sousa, C.2
-
10
-
-
84855615947
-
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome
-
Anand G, Hasan N, Jayapal S, et al. Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol 2012;54:187-189.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 187-189
-
-
Anand, G.1
Hasan, N.2
Jayapal, S.3
-
11
-
-
79955911658
-
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: A new inborn error of metabolism with potential treatment
-
Bosch AM, Abeling NG, Ijlst L, et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 2011; 34:159-164.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 159-164
-
-
Bosch, A.M.1
Abeling, N.G.2
Ijlst, L.3
-
12
-
-
84869210963
-
Support your local paediatric neurophysiologist
-
Pitt M. Support your local paediatric neurophysiologist. Dev Med Child Neurol.2012;54:1164
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 1164
-
-
Pitt, M.1
-
14
-
-
39749110158
-
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration-a late onset variant of PCH-1
-
Lev D, Michelson-Kerman M, Vinkler C, et al.Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration-a late onset variant of PCH-1? Eur J Paediatr Neurol 2008; 12:97-101.
-
(2008)
Eur J Paediatr Neurol
, vol.12
, pp. 97-101
-
-
Lev, D.1
Michelson-Kerman, M.2
Vinkler, C.3
-
15
-
-
0032911790
-
Familial pontocerebellar hypoplasia type i with anterior horn cell disease
-
Gorgen-Pauly U, Sperner J, Reiss I, et al. Familial pontocerebellar hypoplasia type I with anterior horn cell disease. Eur J Paediatr Neurol 1999;3:33-38.
-
(1999)
Eur J Paediatr Neurol
, vol.3
, pp. 33-38
-
-
Gorgen-Pauly, U.1
Sperner, J.2
Reiss, I.3
-
17
-
-
0025269303
-
Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease)
-
Kamoshita S, Takei Y, Miyao M, et al. Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). Pediatr Pathol 1990;10:133-142.
-
(1990)
Pediatr Pathol
, vol.10
, pp. 133-142
-
-
Kamoshita, S.1
Takei, Y.2
Miyao, M.3
-
18
-
-
84873671848
-
Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations
-
Rudnik-Schoneborn S, Senderek J, Jen JC, et al. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology,2013;80:438-446
-
(2013)
Neurology
, vol.80
, pp. 438-446
-
-
Rudnik-Schoneborn, S.1
Senderek, J.2
Jen, J.C.3
-
19
-
-
84861608931
-
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
-
Wan J, Yourshaw M, Mamsa H, et al. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet 2012; 44:704-708.
-
(2012)
Nat Genet
, vol.44
, pp. 704-708
-
-
Wan, J.1
Yourshaw, M.2
Mamsa, H.3
-
20
-
-
84876078704
-
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
-
Dlamini N, Josifova DJ, Paine SM, et al. Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. Neuromuscul Disord 2013; 23:391-398.
-
(2013)
Neuromuscul Disord
, vol.23
, pp. 391-398
-
-
Dlamini, N.1
Josifova, D.J.2
Paine, S.M.3
-
21
-
-
22844431980
-
The role of electromyography in the management of obstetric brachial plexus palsies
-
Pitt M, Vredeveld JW. The role of electromyography in the management of obstetric brachial plexus palsies. Suppl Clin Neurophysiol 2004; 57:272-279.
-
(2004)
Suppl Clin Neurophysiol
, vol.57
, pp. 272-279
-
-
Pitt, M.1
Vredeveld, J.W.2
-
22
-
-
22844441754
-
The role of electromyography in the management of the brachial plexus palsy of the newborn
-
Pitt M, Vredeveld JW. The role of electromyography in the management of the brachial plexus palsy of the newborn. Clin Neurophysiol 2005; 116:1756-1761.
-
(2005)
Clin Neurophysiol
, vol.116
, pp. 1756-1761
-
-
Pitt, M.1
Vredeveld, J.W.2
-
23
-
-
84863779961
-
Needle electromyography at 1 month predicts paralysis of elbow flexion at 3 months in obstetric brachial plexus lesions
-
Van Dijk JG, Pondaag W, Buitenhuis SM, et al. Needle electromyography at 1 month predicts paralysis of elbow flexion at 3 months in obstetric brachial plexus lesions. Dev Med Child Neurol 2012; 54:753-758.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 753-758
-
-
Van Dijk, J.G.1
Pondaag, W.2
Buitenhuis, S.M.3
-
24
-
-
84863780714
-
Why wait 3 months before doing electromyography in obstetric brachial plexus lesions? Challenging the norm
-
Pitt M. Why wait 3 months before doing electromyography in obstetric brachial plexus lesions? Challenging the norm. Dev Med Child Neurol.2012;54:682
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 682
-
-
Pitt, M.1
-
26
-
-
84877848692
-
Intra-operative neurophysiological prediction of upper trunk recovery in obstetric brachial plexus palsy with neuroma in continuity
-
Chin KF, Misra VP, Sicuri GM, et al. Intra-operative neurophysiological prediction of upper trunk recovery in obstetric brachial plexus palsy with neuroma in continuity. Bone Joint J 2013; 95-B:699-705.
-
(2013)
Bone Joint J
, vol.95 B
, pp. 699-705
-
-
Chin, K.F.1
Misra, V.P.2
Sicuri, G.M.3
-
27
-
-
84863278015
-
Utility of electrodiagnostic testing and computed tomography myelography in the preoperative evaluation of neonatal brachial plexus palsy
-
Vanderhave KL, Bovid K, Alpert H, et al. Utility of electrodiagnostic testing and computed tomography myelography in the preoperative evaluation of neonatal brachial plexus palsy. J Neurosurg Pediatr 2012; 9:283-289
-
(2012)
J Neurosurg Pediatr
, vol.9
, pp. 283-289
-
-
Vanderhave, K.L.1
Bovid, K.2
Alpert, H.3
-
28
-
-
84871893720
-
Bilateral thoracic outlet syndrome: An uncommon presentation of a rare condition in children
-
Khan A, Rattihalli RR, Hussain N, Sridhar A. Bilateral thoracic outlet syndrome: an uncommon presentation of a rare condition in children. Ann Indian Acad Neurol 2012; 15:323-325.
-
(2012)
Ann Indian Acad Neurol
, vol.15
, pp. 323-325
-
-
Khan, A.1
Rattihalli, R.R.2
Hussain, N.3
Sridhar, A.4
-
29
-
-
84865486301
-
Axillary nerve injury in young adults-an overlooked diagnosis? Early results of nerve reconstruction and nerve transfers
-
Dahlin LB, Coster M, Bjorkman A, Backman C. Axillary nerve injury in young adults-an overlooked diagnosis? Early results of nerve reconstruction and nerve transfers. J Plast Surg Hand Surg 2012; 46:257-261.
-
(2012)
J Plast Surg Hand Surg
, vol.46
, pp. 257-261
-
-
Dahlin, L.B.1
Coster, M.2
Bjorkman, A.3
Backman, C.4
-
30
-
-
80155132370
-
Guillain-Barre syndrome and H1N1 influenza vaccine in UK children
-
Verity C, Stellitano L, Winstone AM, et al. Guillain-Barre syndrome and H1N1 influenza vaccine in UK children. Lancet 2011; 378:1545-1546.
-
(2011)
Lancet
, vol.378
, pp. 1545-1546
-
-
Verity, C.1
Stellitano, L.2
Winstone, A.M.3
-
31
-
-
84861059298
-
A 3-month-old baby with H1N1 and Guillain-Barre syndrome
-
[Epub ahead of print]
-
Vasconcelos A, Abecasis F, Monteiro R, et al. A 3-month-old baby with H1N1 and Guillain-Barre syndrome. BMJ Case Rep 2012. [Epub ahead of print]
-
(2012)
BMJ Case Rep
-
-
Vasconcelos, A.1
Abecasis, F.2
Monteiro, R.3
-
32
-
-
84875781557
-
Congenital myasthenic syndromes: An update
-
Finlayson S, Beeson D, Palace J. Congenital myasthenic syndromes: an update. Pract Neurol 2013; 13:80-91.
-
(2013)
Pract Neurol
, vol.13
, pp. 80-91
-
-
Finlayson, S.1
Beeson, D.2
Palace, J.3
-
33
-
-
42449105304
-
Neurophysiological strategies for the diagnosis of disorders of the neuromuscular junction in children
-
Pitt M. Neurophysiological strategies for the diagnosis of disorders of the neuromuscular junction in children. Dev Med Child Neurol 2008; 50:328-333.
-
(2008)
Dev Med Child Neurol
, vol.50
, pp. 328-333
-
-
Pitt, M.1
-
34
-
-
84888132091
-
Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: Clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis
-
[Epub ahead of print]. doi: 10.1136/bcr.12.2011.5462
-
Dilena R, Abicht A, Sergi P, et al. Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis. J Child Neurol 2013. [Epub ahead of print]. doi: 10.1136/bcr.12.2011.5462.
-
(2013)
J Child Neurol
-
-
Dilena, R.1
Abicht, A.2
Sergi, P.3
-
35
-
-
78650200464
-
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
-
Munot P, Lashley D, Jungbluth H, et al. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. Neuromuscul Disord 2010; 20:796-800.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 796-800
-
-
Munot, P.1
Lashley, D.2
Jungbluth, H.3
-
36
-
-
79956125843
-
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
-
Robb SA, Sewry CA, Dowling JJ, et al. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul Disord 2011; 21:379-386.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 379-386
-
-
Robb, S.A.1
Sewry, C.A.2
Dowling, J.J.3
-
37
-
-
84863317746
-
The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years
-
Shah DU, Darras BT, Markowitz JA, et al. The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years. Pediatr Neurol 2012; 47:97-100.
-
(2012)
Pediatr Neurol
, vol.47
, pp. 97-100
-
-
Shah, D.U.1
Darras, B.T.2
Markowitz, J.A.3
-
38
-
-
9144223871
-
Electromyography guides toward subgroups of mutations in muscle channelopathies
-
Fournier E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56:650-661.
-
(2004)
Ann Neurol
, vol.56
, pp. 650-661
-
-
Fournier, E.1
Arzel, M.2
Sternberg, D.3
-
39
-
-
30944443044
-
Electrophysiological signs of muscle channelopathies by causal mutation
-
Fournier E. Electrophysiological signs of muscle channelopathies by causal mutation. Rev Neurol (Paris) 2005; 161:1251-1259.
-
(2005)
Rev Neurol (Paris)
, vol.161
, pp. 1251-1259
-
-
Fournier, E.1
-
40
-
-
33749493507
-
Cold extends electromyography distinction between ion channel mutations causing myotonia
-
Fournier E, Viala K, Gervais H, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-365.
-
(2006)
Ann Neurol
, vol.60
, pp. 356-365
-
-
Fournier, E.1
Viala, K.2
Gervais, H.3
-
41
-
-
84859754197
-
Electrical impedance myography in spinal muscular atrophy: A longitudinal study
-
Rutkove SB, Gregas MC, Darras BT. Electrical impedance myography in spinal muscular atrophy: a longitudinal study. Muscle Nerve 2012; 45:642-647.
-
(2012)
Muscle Nerve
, vol.45
, pp. 642-647
-
-
Rutkove, S.B.1
Gregas, M.C.2
Darras, B.T.3
-
42
-
-
84869209462
-
Experience of using electromyography of the genioglossus in the investigation of paediatric dysphagia
-
Vijayakumar K, Rockett J, Ryan M, et al. Experience of using electromyography of the genioglossus in the investigation of paediatric dysphagia. Dev Med Child Neurol 2012; 54:1127-1132.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 1127-1132
-
-
Vijayakumar, K.1
Rockett, J.2
Ryan, M.3
-
43
-
-
0026877845
-
Congenital deglutition disorder revealing cerebral stem disorders.12 cases with neurophysiological study [in French]
-
Renault F, Couvreur J. Congenital deglutition disorder revealing cerebral stem disorders. 12 cases with neurophysiological study [in French]. Arch Fr Pediatr.1992;49:511-517.
-
(1992)
Arch Fr Pediatr
, vol.49
, pp. 511-517
-
-
Renault, F.1
Couvreur, J.2
-
44
-
-
0026885005
-
Facial, lingual and pharyngeal electromyography in children: A method to study sucking and swallowing disorders and their pathophysiology [in French]
-
Renault F, Raimbault J. Facial, lingual and pharyngeal electromyography in children: a method to study sucking and swallowing disorders and their pathophysiology [in French]. Neurophysiol Clin 1992; 22:249-260.
-
(1992)
Neurophysiol Clin
, vol.22
, pp. 249-260
-
-
Renault, F.1
Raimbault, J.2
-
45
-
-
45449089876
-
Complementary investigations in congenital dysphagia [in French]
-
Renault F. Complementary investigations in congenital dysphagia [in French]. Arch Pediatr 2008; 15:834-836.
-
(2008)
Arch Pediatr
, vol.15
, pp. 834-836
-
-
Renault, F.1
-
46
-
-
79957936358
-
Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence
-
Renault F, Baudon JJ, Galliani E, et al. Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence. Muscle Nerve2011,43:866-871.
-
(2011)
Muscle Nerve
, vol.43
, pp. 866-871
-
-
Renault, F.1
Baudon, J.J.2
Galliani, E.3
-
47
-
-
84867822455
-
Electromyography in children's laryngeal mobility disorders: A proposed grading system
-
AlQudehy Z, Norton J, El-Hakim H. Electromyography in children's laryngeal mobility disorders: a proposed grading system. Arch Otolaryngol Head Neck Surg 2012; 138:936-941.
-
(2012)
Arch Otolaryngol Head Neck Surg
, vol.138
, pp. 936-941
-
-
Alqudehy, Z.1
Norton, J.2
El-Hakim, H.3
-
48
-
-
25144459916
-
Nerve excitability studies: Past, present, future
-
Bostock H Nerve Excitability Studies: Past, Present, Future? Suppl Clin Neurophysiol 2004; 57:85-90.
-
(2004)
Suppl Clin Neurophysiol
, vol.57
, pp. 85-90
-
-
Bostock, H.1
-
49
-
-
51649123667
-
Congenital myasthenic syndromes in childhood: Diagnostic and management challenges
-
Kinali M, Beeson D, Pitt MC, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 2008; 201-202:6-12.
-
(2008)
J Neuroimmunol
, vol.201-202
, pp. 6-12
-
-
Kinali, M.1
Beeson, D.2
Pitt, M.C.3
|