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Number of items: 153.

A

Afifi, A; Olpin, SE; Dalton, A; Leonard, JV; Land, J; Muntoni, F; Lee, PJ; (2001) Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions. J MED GENET , 38 S69 - S69.

Ali, MS; Elliott, M; Harmer, M; Kirkham, F; Lloyd-Thomas, A; (2001) Cerebral oxygenation during warm (35(1)degrees C) and cold (25(1)degrees C) cardiopulmonary bypass in children undergoing open-heart surgery. BRITISH JOURNAL OF ANAESTHESIA , 86 (2) 316P-317P.

B

Baddeley, AD; Vargha-Khadem, F; Mishkin, M; (2001) Preserved recognition in a case of developmental amnesia: Implications for the acquisition of semantic memory? J COGNITIVE NEUROSCI , 13 (3) 357 - 369.

Baldeweg, T; Liegeois, F; Salmond, C; Vargha-Khadem, F; Holloway, V; Gadian, D; Connelly, A; (2001) A direct test for lateralisation of language activation using fMRI: comparison with the Wada Test. In: (pp. S500-S500). ACADEMIC PRESS INC

Bannerman, DM; Lemaire, M; Beggs, S; Rawlins, JNP; Iversen, SD; (2001) Cytotoxic lesions of the hippocampus increase social investigation but do not impair social-recognition memory. EXPERIMENTAL BRAIN RESEARCH , 138 (1) pp. 100-109. 10.1007/s002210100687.

Bastianutto, C; Bestard, JA; Broere, D; de Visser, M; Ferlini, A; Muntoni, F; Patarnello, T; (2001) Dystrophin muscle enhancer 1 is implicated in the activation of nonmuscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. NEUROMUSCULAR DISORD , 11 (6-7) 640 - 640.

Bastianutto, C; Bestard, JA; Lahnakoski, K; Broere, D; De Visser, M; Zaccolo, M; Pozzan, T; ... Patarnello, T; + view all (2001) Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. HUM MOL GENET , 10 (23) 2627 - 2635.

Bates, AW; Smith, VV; (2001) Symptomatic diffuse colonic lipomatosis in Proteus syndrome. HISTOPATHOLOGY , 39 (1) 103 - 104.

Berkley, JA; Mwangi, I; Ngetsa, CJ; Mwarumba, S; Lowe, BS; Marsh, K; Newton, CRJC; (2001) Diagnosis of acute bacterial meningitis in children at a district hospital in sub-Saharan Africa. The Lancet , 357 (9270) pp. 1753-1757. 10.1016/S0140-6736(00)04897-2.

Blake, DJ; Brockington, M; Muntoni, F; Benson, MA; (2001) Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy. MOL BIOL CELL , 12 85A - 85A.

Boels, PJ; Deutsch, J; Gao, B; Haworth, SG; (2001) Perinatal development influences mechanisms of bradykinin-induced relaxations in pulmonary resistance and conduit arteries differently. CARDIOVASCULAR RESEARCH , 51 (1) pp. 140-150. 10.1016/S0008-6363(01)00275-9.

Brockington, M; Blake, DJ; Prandini, P; Brown, SC; Torelli, S; Benson, MA; Ponting, CP; ... Muntoni, F; + view all (2001) A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. AM J HUM GENET , 69 (4) 229 - 229.

Brockington, M; Blake, DJ; Prandini, P; Brown, SC; Torelli, S; Benson, MA; Ponting, CP; ... Muntoni, F; + view all (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. AM J HUM GENET , 69 (6) 1198 - 1209.

Brockington, M; Prandini, P; Brown, SC; Sewry, CA; Blake, DJ; Muntoni, F; (2001) A new gene encoding a fukutin-like protein and its analysis in patients with congenital muscular dystrophy. NEUROMUSCULAR DISORD , 11 (6-7) 635 - 635.

Brockington, M; Yuva, Y; Prandini, P; Brown, SC; Torelli, S; Benson, MA; Herrmann, R; ... Muntoni, F; + view all (2001) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. HUM MOL GENET , 10 (25) 2851 - 2859.

Brodsky, GL; Mestroni, L; Muntoni, F; Sewry, C; Miocic, S; Sinagra, G; (2001) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement - Response. CIRCULATION , 103 (4) E20 - E20.

Brown, SC; Muntoni, F; Sewry, CA; (2001) Non-sarcolemmal muscular dystrophies. BRAIN PATHOL , 11 (2) 193 - 205.

Brown, SC; Sewry, CA; Brockington, M; Muntoni, F; (2001) alpha-dystroglycan expression and secondary merosin deficiency. NEUROMUSCULAR DISORD , 11 (6-7) 636 - 636.

C

Calamante, F; Ganesan, V; Kirkham, FJ; Jan, W; Chong, WK; Gadian, DG; Connelly, A; (2001) MR perfusion imaging in moyamoya syndrome - Potential implications for clinical evaluation of occlusive cerebrovascular disease. STROKE , 32 (12) 2810 - 2816.

Chessells, JM; Harrison, G; Richards, SM; Bailey, CC; Hill, FGH; Gibson, BE; Hann, IM; (2001) Down's syndrome and acute lymphoblastic leukaemia: clinical features and response to treatment. ARCHIVES OF DISEASE IN CHILDHOOD , 85 (4) pp. 321-325. 10.1136/adc.85.4.321.

Chowdhury, U; Gordon, I; Lask, B; (2001) Neuroimaging and anorexia nervosa. Journal of the American Academy of Child and Adolescent Psychiatry , 40 (7) p. 738.

Clark, CA; Hedehus, M; Moseley, ME; (2001) Diffusion time dependence of the apparent diffusion tensor in healthy human brain and white matter disease. Magn Reson Med , 45 (6) pp. 1126-1129.

Cohen, N; Dunckley, MG; Rimessi, P; Gualandi, F; Ferlini, A; Muntoni, F; (2001) An intronic mutation in the dystrophin gene causing X-linked dilated cardiomyopathy may indicate the presence of splicing regulatory motifs. NEUROMUSCULAR DISORD , 11 (6-7) 639 - 640.

Cooper, RN; Irintchev, A; Di Santo, JP; Zweyer, M; Morgan, JE; Partridge, TA; Butler-Browne, GS; ... Wernig, A; + view all (2001) A new immunodeficient mouse model for human myoblast transplantation. Hum Gene Ther , 12 (7) pp. 823-831. 10.1089/104303401750148784.

Crawley, J; Smith, S; Muthinji, P; Marsh, K; Kirkham, F; (2001) Electroencephalographic and clinical features of cerebral malaria. ARCHIVES OF DISEASE IN CHILDHOOD , 84 (3) pp. 247-253. 10.1136/adc.84.3.247.

Croft, RJ; Klugman, A; Baldeweg, T; Gruzelier, JH; (2001) Electrophysiological evidence of serotonergic impairment in long-term MDMA ("ecstasy") users. AM J PSYCHIAT , 158 (10) 1687 - 1692.

Cross, H; (2001) Discussion: Trials in children. Epilepsy Research , 45 (1-3) pp. 139-140.

D

De Haan, M; (2001) The neuropsychology of face processing during infancy and childhood. In: Nelson, CA and Luciana, M, (eds.) Handbook of Developmental Cognitive Neuroscience. (pp. 381-398). MIT Press: Boston MA.

De Haan, M; Halit, H; (2001) The development and neural basis of face processing during infancy. In: Kalverboer, AF and Gramsbergen, A, (eds.) Brain and behavior in human development: a sourcebook. (pp. 921-937). Kluwer Academic Publishers: Dordrecht NL.

Dodds, E; Dunckley, MG; Roberts, RG; Muntoni, F; Shaw, CE; (2001) Overexpressed human survival motor neurone isoforms, SMN+exon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution. FEBS LETT , 495 (1-2) 31 - 38.

Dumonceaux, J; Goujon, C; Joliot, V; Briand, P; Hazan, U; (2001) Determination of essential amino acids involved in the CD4-independent tropism of the X4 human immunodeficiency virus type 1 m7NDK isolate: Role of potential N glycosylations in the C2 and V3 regions of gp120. JOURNAL OF VIROLOGY , 75 (11) pp. 5425-5428. 10.1128/JVI.75.11.5425-5428.2001.

Duzel, E; Vargha-Khadem, F; Heinze, HJ; Mishkin, M; (2001) Brain activity evidence for recognition without recollection after early hippocampal damage. P NATL ACAD SCI USA , 98 (14) 8101 - 8106.

de Bruyn, R; Gordon, I; (2001) Postnatal investigation of fetal renal disease. Prenat Diagn , 21 (11) pp. 984-991.

de Haan, M; (2001) Event-related potentials to facial expressions of emotion in 7-month-old infants. INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY , 41 (3) p. 214.

de Haan, M; Johnson, MH; Maurer, D; Perrett, DI; (2001) Recognition of individual faces and average face prototypes by 1-and 3-month-old infants. COGNITIVE DEV , 16 (2) 659 - 678.

F

Ferreiro, A; Estournet, B; Laroche, C; Cabello, A; Gutierrez, E; Straub, V; Goemans, N; ... Guicheney, P; + view all (2001) Genetic characterisation of multi-minicore disease: identification of a first locus and evidence for genetic heterogeneity. NEUROMUSCULAR DISORD , 11 (6-7) 622 - 622.

Fisher, I; Morgan, J; Abraham, D; Brittan, H; Dunn, M; Muntoni, F; (2001) Glucocorticoid-induced changes in the gene expression of dystrophic mouse muscle. NEUROMUSCULAR DISORD , 11 (6-7) 663 - 663.

Fisher, SE; Lai, CSL; Hurst, JA; Vargha-Khadem, F; Monaco, AP; (2001) A novel forkhead-domain gene is mutated in a severe speech and language disorder. The American Journal of Human Genetics , 69 (4) 1-.

Fisher, SE; Lai, CSL; Hurst, JA; Vargha-Khadem, F; Monaco, AP; (2001) A novel forkhead-domain gene is mutated in a severe speech and language disorder. AM J HUM GENET , 69 (4) 176 - 176.

Fitzgerald, M; Beggs, S; (2001) The neurobiology of pain: Developmental aspects. NEUROSCIENTIST , 7 (3) 246 - 257.

Frith, U; Vargha-Khadem, F; (2001) Are there sex differences in the brain basis of literacy related skills? Evidence from reading and spelling impairments after early unilateral brain damage. NEUROPSYCHOLOGIA , 39 (13) 1485 - 1488.

G

Ganesan, V; Borzyskowski, M; (2001) Characteristics and course of urinary tract dysfunction after acute transverse myelitis in. Dev Med Child Neurol , 43 (7) pp. 473-475.

Ganesan, V; Gordon, A; (2001) Stroke In Childhood. Nurse2Nurse , 2 (2) pp. 47-48.

Goetz, I; Hoo, AF; Lum, S; Stocks, J; (2001) Assessment of passive respiratory mechanics in infants: double versus single occlusion? Eur Respir J , 17 (3) pp. 449-455.

Gordon, I; (2001) Diuretic renography in infants with prenatal unilateral hydronephrosis: an explanation for the controversy about poor drainage. BJU International , 87 (6) pp. 551-555.

Gordon, I; Colarinha, P; Fettich, J; Fischer, S; Frokier, J; Hahn, K; Kabasakal, L; ... van Velzen, J; + view all (2001) Guidelines for indirect radionuclide cystography. European Journal of Nuclear Medicine , 28 (3) BP16-BP20.

Gordon, I; Woolf, A; Barkovics, M; (2001) Unravelling the role of vesicoureteric reflux (VUR) and renal parenchymal damage in children with urinary tract infection (UTI). Journal of Nuclear Medicine , 42 (5) 1426-.

Grice, SJ; Spratling, MW; Karmiloff-Smith, A; Halit, H; Csibra, G; de Haan, M; Johnson, MH; (2001) Disordered visual processing and oscillatory brain activity in autism and Williams Syndrome. NEUROREPORT , 12 (12) 2697 - 2700.

Griffiths, MJ; Ndungu, F; Baird, KL; Muller, DP; Marsh, K; Newton, CR; (2001) Oxidative stress and erythrocyte damage in Kenyan children with severe Plasmodium falciparum malaria. Br J Haematol , 113 (2) pp. 486-491.

Grohmann, K; Schuelke, M; Diers, A; Hoffmann, K; Lucke, B; Adams, C; Bertini, E; ... Hubner, C; + view all (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. NAT GENET , 29 (1) 75 - 77.

H

Hahn, K; Fischer, S; Colarinha, P; Gordon, I; Mann, M; Piepsz, A; Olivier, P; ... van Velzen, J; + view all (2001) Guidelines for bone scintigraphy in children. European Journal of Nuclear Medicine , 28 (3) BP42-BP47.

Hill, AAR; P, R; (2001) Downstream targets of Hand1 as putative effectors of cardiac morphogenesis. In:

Hoo, AF; Lum, SY; Goetz, I; Dezateux, C; Stocks, J; (2001) Influence of jacket placement on respiratory compliance during raised lung volume measurements in infants. PEDIATRIC PULMONOLOGY , 31 (1) pp. 51-58.

Howman, EV; Poon, E; Newey, SE; Torelli, S; Brown, S; Hilton-Jones, D; Squier, W; ... Davies, KE; + view all (2001) Syncoilin expression in neuromuscular disorders. AM J HUM GENET , 69 (4) 638 - 638.

Hsia, TY; Kirkham, F; Waldman, A; Tsang, V; (2001) The implications of extensive cerebral vascular dysplasia in surgical repair of coarctation of the aorta end ventricular septal defect. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY , 121 (5) pp. 998-1001. 10.1067/mtc.2001.110489.

Hypponen, E; Laara, E; Reunanene, A; Jarvelin, MR; Virtanen, SM; (2001) Intake of vitamin D and risk of type 1 diabetes: a birth-cohort study. LANCET , 358 (9292) 1500 - 1503.

Hypponen, E; Leon, DA; Kenward, MG; Lithell, H; (2001) Prenatal growth and risk of occlusive and haemorrhagic stroke in Swedish men and women born 1915-29: historical cohort study. BRIT MED J , 323 (7320) 1033 - 1034.

Hyppönen, E; (2001) Growth and Nutrition in the Etiology of Type 1 diabetes. Doctoral thesis , UNSPECIFIED.

Hyppönen, E; (2001) Growth and Nutrition in the development of type 1 diabetes (Kasvu ja Ravitsemus nuoruustyypin diabeteksen synnyssä, in Finnish). Ravitsemuskatsaus

Hyppönen, E; Leon, DA; Kenward, MG; Lithell, H; (2001) Prenatal growth, socio-economic trajectory, and the risk of stroke later in life. In: (Proceedings) First World Congress on The Fetal Origins of Adult Disease, Mumbai, India.

J

Johnson, MH; de Haan, M; (2001) Developing cortical specialization for visual-cognitive function: The case of face recognition. In: McClelland, J and Siegler, R, (eds.) Mechanisms of cognitive development: behavioural and neural perspectives. (pp. 253-270). Erlbaum: Mahwah NJ.

Johnson, MH; de Haan, M; (2001) Developing cortical specialization for visual-cognitive function: The case of face recognition. In: McClelland, JL and Siegler, RS, (eds.) (Proceedings) 29th Carnegie Mellon Symposia on Cognition Mechanisms of Cognitive Development. (pp. pp. 253-270). LAWRENCE ERLBAUM ASSOC PUBL

Johnson, MH; de Haan, M; Oliver, A; Smith, W; Hatzakis, H; Tucker, LA; Csibra, G; (2001) Recording and analyzing high-density event-related potentials with infants using the Geodesic sensor net. DEVELOPMENTAL NEUROPSYCHOLOGY , 19 (3) pp. 295-323. 10.1207/S15326942DN1903_4.

Joliot, V; Goujon, C; Dumonceaux, J; Renard, A; Briand, P; Hazan, U; (2001) A human immunodeficiency virus Env inducible transcription system to examine consequences of gp120 expression. JOURNAL OF VIROLOGICAL METHODS , 98 (2) pp. 145-151. 10.1016/S0166-0934(01)00373-1.

Jungbluth, H; Sewry, CA; Brown, SC; Nowak, KJ; Laing, NG; Wallgren-Pettersson, C; Pelin, K; ... Muntoni, F; + view all (2001) Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. NEUROMUSCULAR DISORD , 11 (1) 35 - 40.

Jungbluth, H; Sewry, CA; Squier, W; Newsom-Davies, J; Buj-Bello, A; Mercuri, E; Manzur, AY; (2001) Abnormal neuromuscular transmission in a case of myotubular (centronuclear) myopathy. NEUROMUSCULAR DISORD , 11 (6-7) 625 - 625.

K

Kassem, SA; Ariel, I; Thornton, PS; Hussain, K; Smith, V; Lindley, KJ; Aynsley-Green, A; (2001) p57<sup>KIP2</sup> expression in normal islet cells and in hyperinsulinism of infancy. Diabetes , 50 (12) pp. 2763-2769. 10.2337/diabetes.50.12.2763.

Kelly, DA; Hall, SM; Haworth, SG; Hislop, AA; (2001) Effect of pulmonary hypertension on arterial smooth muscle cell movement and structure in neonatal porcine lung. The FASEB Journal , 15 (4) A123-A123.

Kinali, M; Koutroulis, G; Dawson, D; Nihoyannopoulos, P; Muntoni, F; (2001) Detection of early cardiac involvement in Duchenne muscular dystrophy using Tissue Doppler Imaging. NEUROMUSCULAR DISORD , 11 (6-7) 639 - 639.

Kinali, M; Mercuri, E; Main, M; Banks, L; Higgins, R; Manzur, A; Muntoni, F; (2001) Pilot trial of salbutamol in spinal muscular atrophy. NEUROMUSCULAR DISORD , 11 (6-7) 645 - 646.

King, JA; Burgess, N; Hartley, T; Vargha-Khadem, F; O'Keefe, J; (2001) Bilateral damage to the human hippocampus selectively impairs allocentric as opposed to egocentric spatial memory. In: (pp. 1-).

Kiratli, PO; Gordon, I; Nagaraj, N; (2001) Neonatal hypothyroid disease - Absent salivary gland evident on technetium-99m pertechnetate scan. Clinical Nuclear Medicine , 26 (4) pp. 310-313.

Kirkham, FJ; (2001) Non-traumatic coma in children. ARCH DIS CHILD , 85 (4) 303 - 312.

Kirkham, FJ; Calamante, F; Bynevelt, M; Gadian, DG; Evans, JPM; Cox, TC; Connelly, A; (2001) Perfusion magnetic resonance abnormalities in patients with sickle cell disease. ANN NEUROL , 49 (4) 477 - 485.

Kirkham, FJ; Hewes, DKM; Prengler, M; Wade, A; Lane, R; Evans, JPM; (2001) Nocturnal hypoxaemia and central-nervous-system events in sickle-cell disease. LANCET , 357 (9269) 1656 - 1659.

Klinge, L; Scott, RC; de Sousa, C; (2001) Neonatal subdural and extradural haemorrhage in Prader-Willi syndrome. Neuropediatrics , 32 (4) pp. 221-222. 10.1055/s-2001-17379.

Kotsoni, E; de Haan, M; Johnson, MH; (2001) Categorical perception of facial expressions by 7-month-old infants. PERCEPTION , 30 (9) 1115 - 1125.

Koutroulis, G; Kinali, M; Dawson, D; Muntoni, F; Nihoyannopoulos, P; (2001) Detection of early myocardial involvement in Duchenne muscular Dystrophy using tissue Doppler derived myocardial velocity gradients. EUR HEART J , 22 594 - 594.

Koutroulis, G; Kinali, M; Dawson, D; Muntoni, F; Nihoyannopoulos, P; (2001) Evaluation of left ventricular relaxation in patients affected with Duchenne muscular dystrophy using tissue Doppler imaging. EUR HEART J , 22 412 - 412.

L

Lai, CS; Fisher, SE; Hurst, JA; Vargha-Khadem, F; Monaco, AP; (2001) A novel transcription factor is mutated in a severe speech and language disorder. In: (pp. 80-).

Lai, CS; Fisher, SE; Hurst, JA; Vargha-Khadem, F; Monaco, AP; (2001) A novel transcription factor is mutated in a severe speech and language disorder. AM J MED GENET , 105 (7) 587 - 587.

Lai, CSL; Fisher, SE; Hurst, JA; Vargha-Khadem, F; Monaco, AP; (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. NATURE , 413 (6855) 519 - 523.

Lascelles, K; Hewes, D; Ganesan, V; (2001) An unexpected consequence of a roller coaster ride. J NEUROL NEUROSUR PS , 71 (5) 704 - 705.

Le Bihan, D; Mangin, JF; Poupon, C; Clark, CA; Pappata, S; Molko, N; Chabriat, H; (2001) Diffusion tensor imaging: concepts and applications. J Magn Reson Imaging , 13 (4) pp. 534-546.

Lum, S; Hoo, AF; Dezateux, C; Goetz, I; Wade, A; DeRooy, L; Costeloe, K; (2001) The association between birthweight, sex, and airway function in infants of nonsmoking mothers. AM J RESP CRIT CARE , 164 (11) 2078 - 2084.

Lux, AL; Edwards, SW; Osborne, JP; Hancock, E; Johnson, AL; Kennedy, CR; O'Callaghan, FJK; ... Verity, CM; + view all (2001) Revised guideline for prescribing vigabatrin in children - Guideline's claim about infantile spasms is not based on appropriate evidence. BRITISH MEDICAL JOURNAL , 322 (7280) p. 236. 10.1136/bmj.322.7280.236.

Lux, AL; Edwards, SW; Osborne, JP; Hancock, E; Johnson, AL; Kennedy, CR; O'Callaghan, FJK; ... Wild, J; + view all (2001) Revised guideline for prescribing vigabatrin in children [6] (multiple letters). British Medical Journal , 322 (7280) pp. 236-237.

Lux, AL; Walker, SG; O'Callaghan, FJK; Greeley, CS; (2001) Shaken impact syndrome. LANCET , 357 (9263) p. 1207. 10.1016/S0140-6736(00)04355-5.

M

Maguire, EA; Vargha-Khadem, F; Mishkin, M; (2001) The effects of bilateral hippocampal damage on fMRI regional activations and interactions during memory retrieval. BRAIN , 124 1156 - 1170.

Main, M; Kairon, H; Mercuri, E; Muntoni, F; (2001) The Hammersmith functional motor scale for children with spinal muscular atrophy. NEUROMUSCULAR DISORD , 11 (6-7) 646 - 646.

Mangin, JF; Poupon1, C; Clark, C; Le Bihan, D; Bloch, I; (2001) Eddy-current distortion correction and Robust tensor estimation for MR diffusion imaging. Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) , 2208 pp. 186-194. 10.1007/3-540-45468-3_23.

Mann, CJ; Honeyman, K; Cheng, AJ; Ly, T; Lloyd, F; Fletcher, S; Morgan, JE; ... Wilton, SD; + view all (2001) Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci U S A , 98 (1) pp. 42-47. 10.1073/pnas.011408598.

McNamara, B; Ray, JL; Arthurs, OJ; Boniface, S; (2001) Transcranial magnetic stimulation for depression and other psychiatric disorders. PSYCHOLOGICAL MEDICINE , 31 (7) pp. 1141-1146.

Mercuri, E; Kinali, M; van der Poel, LA; Jungbluth, H; Brockington, M; Sewry, C; Brown, SC; (2001) Clinical and muscle MRI findings in congenital muscular dystrophy with distal laxity. NEUROMUSCULAR DISORD , 11 (6-7) 638 - 638.

Mercuri, E; Muntoni, F; (2001) What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy. Eur J Paediatr Neurol , 5 (1) pp. 3-5. 10.1053/ejpn.2001.0397.

Mercuri, E; Rutherford, M; De Vile, C; Counsell, S; Sewry, C; Brown, S; Bydder, G; ... Muntoni, F; + view all (2001) Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. NEUROMUSCULAR DISORD , 11 (3) 297 - 299.

Miller, M; (2001) Shaken impact syndrome. Lancet , 357 (9263) 1207-. 10.1016/S0140-6736(00)04354-3.

Moghadaszadeh, B; Petit, N; Jaillard, C; Brockington, M; Roy, SQ; Merlini, L; Romero, N; ... Guicheney, P; + view all (2001) Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. NAT GENET , 29 (1) 17 - 18.

Moghadaszadeh, B; Petit, P; Jaillard, C; Brockington, M; Roy, SQ; Merlini, L; Romero, N; ... Guicheney, P; + view all (2001) Identification of the gene causing congenital muscular dystrophy with early rigidity of the spine and restrictive respiratory syndrome (RSMD1). NEUROMUSCULAR DISORD , 11 (6-7) 670 - 670.

Mohan, U; Misra, VP; Britto, J; Muntoni, F; King, RHM; Thomas, PK; (2001) Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement. NEUROMUSCULAR DISORD , 11 (4) 395 - 399.

Muntoni, F; (2001) Is a muscle biopsy in Duchenne dystrophy really necessary? NEUROLOGY , 57 (4) 574 - 575.

N

Newton, CR; (2001) Infectious diseases of the nervous system. Journal of Neurology, Neurosurgery and Psychiatry , 70 268-.

O

Ohno, K; Tsujino, A; Brengman, JM; Harper, CM; Bajzer, Z; Udd, B; Beyring, R; ... Engel, AG; + view all (2001) Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , 98 (4) pp. 2017-2022. 10.1073/pnas.98.4.2017.

Ohno, K; Tsujino, A; Brengman, JM; Harper, CM; Bajzer, Z; Udd, B; Beyring, R; ... Engel, AG; + view all (2001) Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans (vol 98, pg 2017, 2001). PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , 98 (9) p. 5369.

Okajimi, K; Hasegawa, T; Kubota, T; Seki, H; Sugimoto, Y; Fukushima Y, Y; N, B; ... R, M; + view all (2001) Further delineation of Antley Bixler syndrome. In: (pp. 616-).

P

Pascalis, O; Demont, E; de Haan, M; Campbell, R; (2001) Recognition of faces of different species: A developmental study between 5 and 8 years of age. INFANT CHILD DEV , 10 (1-2) 39 - 45.

Philpot, J; Counsell, S; Bydder, G; Sewry, CA; Dubowitz, V; Muntoni, F; (2001) Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect? NEUROMUSCULAR DISORD , 11 (5) 489 - 493.

Piepsz, A; Colarinha, P; Gordon, I; Hahn, K; Olivier, P; Sixt, R; van Velzen, J; (2001) Guidelines for glomerular filtration rate determination in children. European Journal of Nuclear Medicine , 28 (3) BP31-BP36.

Pitera, JE; Smith, VV; Woolf, A; Milla, PJ; (2001) Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. American Journal of Pathology , 159 (6) pp. 2321-2329.

Pitt, MC; (2001) Electrodiagnosis of neuropathies in newborns and infants. [Lecture]. Presented at: Third international paediatric conference "Improving the use of EMG in paediatrics", Paris.

Pitt, MC; (2001) Painless EMG in children-how to manage the child and the parents. Presented at: Third International Congress "Improving the use of EMG in paediatrics", Paris.

Pogue, R; Anderson, LVB; Pyle, A; Sewry, C; Pollitt, C; Johnson, MA; Davison, K; ... Bushby, KMD; + view all (2001) Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. NEUROMUSCULAR DISORD , 11 (1) 80 - 87.

Poupon, C; Mangin, J; Clark, CA; Frouin, V; Régis, J; Le Bihan, D; Bloch, I; (2001) Towards inference of human brain connectivity from MR diffusion tensor data. Med Image Anal , 5 (1) pp. 1-15.

Prengler, M; Sturt, N; Krywawych, S; Surtees, R; Liesner, R; Kirkham, F; (2001) Homozygous thermolabile variant of the methylenetetrahy-drofolate reductase gene: a potential risk factor for hyperhomo-cysteinaemia, CVD, and stroke in childhood. Developmental Medicine & Child Neurology , 43 (4) pp. 220-225. 10.1111/j.1469-8749.2001.tb00193.x.

Prengler, M; Sturt, N; Krywawych, S; Surtees, R; Liesner, R; Kirkham, F; (2001) Homozygous thermolabile variant of the methylenetetrahydrofolate reductase gene: a potential risk factor for hyperhomocysteinaemia, CVD, and stroke in childhood. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 43 (4) pp. 220-225. 10.1017/S0012162201000421.

Pressler, RM; Boylan, GB; Morton, M; Binnie, CD; Rennie, JM; (2001) Early serial EEG in hypoxic ischaemic encephalopathy. CLINICAL NEUROPHYSIOLOGY , 112 (1) pp. 31-37. 10.1016/S1388-2457(00)00517-4.

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Rees, MI; Lewis, TM; Vafa, B; Ferrie, C; Corry, P; Muntoni, F; Jungbluth, H; ... Owen, MJ; + view all (2001) Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. HUM GENET , 109 (3) 267 - 270.

Richardson, CE; Morgan, JM; Jasani, B; Green, JT; Rhodes, J; Williams, GT; Lindstrom, J; ... Smith, V; + view all (2001) Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit. Gastroenterology , 121 (2) pp. 350-357. 10.1053/gast.2001.26320.

Rowley, SA; O'Callaghan, F; Osborne, JP; (2001) Ophthalmic manifestations of tuberous sclerosis: a population based study. BRITISH JOURNAL OF OPHTHALMOLOGY , 85 (4) pp. 420-423. 10.1136/bjo.85.4.420.

Ruggieri, V; Lubieniecki, F; Meli, F; Diaz, D; Ferragut, E; Saito, K; Brockington, M; ... Taratuto, AL; + view all (2001) Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. NEUROMUSCULAR DISORD , 11 (6-7) 570 - 578.

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Salman, MS; Kirkham, FJ; MacGregor, DL; (2001) Idiopathic "benign" intracranial hypertension: Case series and review. JOURNAL OF CHILD NEUROLOGY , 16 (7) pp. 465-470. 10.2310/7010.2001.17092.

Salman, MS; Kirkham, FJ; MacGregor, DL; (2001) Idiopathic “Benign” Intracranial Hypertension: Case Series and Review. Journal Of Child Neurology , 16 (07) p. 465. 10.2310/7010.2001.17092.

Salmond, CH; Ashburner, J; Friston, KJ; Gadian, DG; Vargha-Khadem, F; (2001) Behavioural and neuropathological evidence for medial temporal lobe abnormality in children with autism. NEUROIMAGE , 13 (6) S1095 - S1095.

Schappi, MG; Smith, VV; Goldblatt, D; Lindley, KJ; Milla, PJ; (2001) Colitis in chronic granulomatous disease. ARCHIVES OF DISEASE IN CHILDHOOD , 84 (2) pp. 147-151. 10.1136/adc.84.2.147.

Scott, RC; Besag, FM; Neville, BG; (2001) Intranasal midazolam for treating febrile seizures in children. Buccal midazolam should be preferred to nasal midazolam. BMJ , 322 (7278) 107-.

Scott, RC; Gadian, DG; Cross, JH; Wood, SJ; Neville, BGR; Connelly, A; (2001) Quantitative magnetic resonance characterization of mesial temporal sclerosis in childhood. NEUROLOGY , 56 (12) 1659 - 1665.

Sewry, CA; Brown, SC; Mercuri, E; Bonne, G; Feng, L; Camici, G; Morris, GE; (2001) Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. NEUROPATH APPL NEURO , 27 (4) 281 - 290.

Sewry, CA; Brown, SC; Pelin, K; Jungbluth, H; Wallgren-Pettersson, C; Labeit, S; Manzur, A; (2001) Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. NEUROMUSCULAR DISORD , 11 (2) 146 - 153.

Sheriffs, IN; Rampling, D; Smith, VV; (2001) Paraffin wax embedded muscle is suitable for the diagnosis of muscular dystrophy. Journal of Clinical Pathology , 54 (7) pp. 517-520.

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Sisodiya, SM; Cross, H; Richardson, M; Wyllie, E; Fish, DR; (2001) What tests are needed to define the epileptogenic zone in patients with malformations of cortical development? In: Luders, HO and Youssef, G, (eds.) Epilepsy surgery. (pp. 951-957). Lippincott, Wilkins and Williams: Hagerstown.

Skordis, LA; Dunckley, MG; Burglen, L; Campbell, L; Talbot, K; Patel, S; Melki, J; ... Muntoni, F; + view all (2001) Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. HUM GENET , 108 (4) 356 - 357.

Skordis, LA; Dunckley, MG; Muntoni, F; (2001) Modification of RNA splicing in the survival motor neuron 2 (SMN2) gene as a therapeutic option in spinal muscular atrophy. NEUROMUSCULAR DISORD , 11 (6-7) 646 - 646.

Smellie, JM; Barratt, TM; Chantler, C; Gordon, I; Prescod, NP; Ransley, PG; Woolf, AS; (2001) Medical versus surgical treatment in children with severe bilateral vesicoureteric reflux and bilateral nephropathy: a randomised trial. Lancet , 357 (9265) pp. 1329-1333. 10.1016/S0140-6736(00)04520-7.

Smith, VV; Malone, M; Risdon, RA; (2001) Focal or diffuse lesions in persistent hyperinsulinemic hypoglycemia of infancy: Concerns about interpretation of intraoperative frozen sections. Pediatric and Developmental Pathology , 4 (2) pp. 138-143.

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T

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Taylor, WJ; Hayward, RD; Lasjaunias, P; Britto, JA; Thompson, DNP; Jones, BM; Evans, RD; (2001) Enigma of raised intracranial pressure in patients with complex craniosynostosis: the role of abnormal intracranial venous drainage. Journal of Neurosurgery , 94 (3) pp. 377-385.

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Torelli, S; Brown, SC; Howman, EV; Newey, SE; Poon, E; Davis, KE; Muntoni, F; (2001) Syncoilin expression in neuromuscular disorders. NEUROMUSCULAR DISORD , 11 (6-7) 629 - 629.

Traub, RD; Whittington, MA; Buhl, EH; LeBeau, FEN; Bibbig, A; Boyd, S; Cross, H; (2001) A possible role for gap junctions in generation of very fast EEG oscillations preceding the onset of, and perhaps initiating, seizures. EPILEPSIA , 42 (2) 153 - 170.

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V

Valente, ST; Chanel, C; Dumonceaux, J; Olivier, R; Marullo, S; Briand, P; Hazan, U; (2001) CXCR4 is down-regulated in cells infected with the CD4-independent X4 human immunodeficiency virus type 1 isolate m7NDK. JOURNAL OF VIROLOGY , 75 (1) pp. 439-447. 10.1128/JVI.75.1.439-447.2001.

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Vargha-Khadem, F; Gadian, DG; Mishkin, M; (2001) Dissociations in cognitive memory: the syndrome of developmental amnesia. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES , 356 (1413) 1435 - 1440.

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Werring, DJ; Clark, CA; Droogan, AG; Barker, GJ; Miller, DH; Thompson, AJ; (2001) Water diffusion is elevated in widespread regions of normal-appearing white matter in multiple sclerosis and correlates with diffusion in focal lesions. MULT SCLER , 7 (2) 83 - 89.

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This list was generated on Sun Mar 17 07:15:21 2019 GMT.