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51

Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

Q. H. Leyten, P. G. Barth, F. J. M. Gabreëls, K. Renkawek, W. O. Renier, A. A. W. M. Gabreëls-Festen, H. J. ter Laak, M. G. Smits

Journal:

Acta Neuropathologica

Year:

1995

Language:

english

File:

PDF, 2.84 MB

english, 1995

52

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

A. A. W. M. Gabreëls-Festen, P. A. Bolhuis, J. E. Hoogendijk, L. J. Valentijn, E. J. H. M. Eshuis, F. J. M. Gabreëls

Journal:

Acta Neuropathologica

Year:

1995

Language:

english

File:

PDF, 949 KB

english, 1995

53

Congenital muscular dystrophy

Q. H. Leyten, H. J. Laak, F. J. M. Gabreëls, W. O. Renier, K. Renkawek, R. C. A. Sengers

Journal:

Acta Neuropathologica

Year:

1993

Language:

english

File:

PDF, 708 KB

english, 1993

54

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q

J. C. Fischer, W. Ruitenbeek, F. J. M. Gabreëls, A. J. M. Janssen, W. O. Renier, R. C. A. Sengers, A. M. Stadhouders, H. J. Laak, J. M. F. Trijbels, J. H. Veerkamp

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 1.00 MB

english, 1986

55

Pharmacokinetics of di-n-propylacetate in epileptic patients

F. Schobben, E. Kleijn, F. J. M. Gabreëls

Journal:

European Journal of Clinical Pharmacology

Year:

1975

Language:

english

File:

PDF, 845 KB

english, 1975

56

Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type

E. Joosten, F. Gabreëls, A. Gabrééls-Festen, G. Vrensen, J. Korten, S. Notermans

Journal:

Acta Neuropathologica

Year:

1974

Language:

english

File:

PDF, 3.36 MB

english, 1974

57

Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; Observations on kidney biopsy, peripheral nerve and cerebral white matter

E. Joosten, M. Hoes, A. Gabreëls-Festen, O. Hommes, H. Schuurmans Stekhoven, J. L. Slooff

Journal:

Acta Neuropathologica

Year:

1975

Language:

english

File:

PDF, 1.59 MB

english, 1975

58

The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease

U. J. G. M. Haelst, F. J. M. Gabreëls

Journal:

Acta Neuropathologica

Year:

1972

Language:

english

File:

PDF, 1.94 MB

english, 1972

59

Polyglucosan bodies in intramuscular motor nerves

R. A. J. A. M. Bernsen, H. L. S. M. Busard, H. J. Laak, F. J. M. Gabreëls, W. O. Renier, E. M. G. Joosten, A. G. M. Theeuwes

Journal:

Acta Neuropathologica

Year:

1989

Language:

english

File:

PDF, 651 KB

english, 1989

60

Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX)

P. H. M. Pop, E. Joosten, A. Spreeken, A. Gabreëls-Festen, H. Jaspar, H. Laak, A. Vos

Journal:

Acta Neuropathologica

Year:

1984

Language:

english

File:

PDF, 1.92 MB

english, 1984

61

Hypertrophy of peripheral nerves in the syndrome of multiple mucosal neuromas, endocrine tumours and marfanoid habitus

E. Joosten, A. Gabreëls-Festen, M. Horstink, F. Gabreëls, H. Jaspar, J. Korten, H. Vingerhoets

Journal:

Acta Neuropathologica

Year:

1974

Language:

english

File:

PDF, 1.52 MB

english, 1974

62

Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins

W. O. Renier, F. J. M. Gabreëls, T. W. J. Hustinx, H. H. J. Jaspar, J. A. G. Geelen, U. J. G. Haelst, E. J. P. Lommen, B. G. A. Haar

Journal:

Acta Neuropathologica

Year:

1981

Language:

english

File:

PDF, 1.59 MB

english, 1981

63

The neuropathy of Cockayne syndrome

A. Vos, A. Gabreëls-Festen, E. Joosten, F. Gabreëls, W. Renier, R. Mullaart

Journal:

Acta Neuropathologica

Year:

1983

Language:

english

File:

PDF, 1.06 MB

english, 1983

64

Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases

G. P. J. M. Gerrits, L. A. H. Monnens, F. J. M. Gabreëls, R. A. Abreu, A. Koster, J. M. F. Trijbels

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 390 KB

english, 1993

65

Quantitative assessment of speech in myotonic dystrophy

Ben Maassen, Jan Pieter Bruggen, Annemarie Nanninga-Korver, Karel Spaendonck, Liesbeth Weyn-Banningh, Fons Gabreëls

Journal:

Journal of Neurology

Year:

1995

Language:

english

File:

PDF, 309 KB

english, 1995

66

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

G. -C. Korenke, H. A. C. M. Bentlage, W. Ruitenbeek, R. C. A. Sengers, W. Sperl, J. M. F. Trijbels, F. J. M. Gabreels, F. A. Wijburg, V. Wiedermann, F. Hanefeld, U. Wendel, M. Reckmann, V. Griebel, H.

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 506 KB

english, 1990

67

The relation between neurological trauma parameters and long-term outcome in children with closed head injury

M. B. M. Ruijs, F. J. M. Gabreëls, A. Keyser

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 463 KB

english, 1993

68

Effect of thymectomy on myasthenia gravis and autoimmune thrombocytopenic purpura in a 13-year-old girl

P. H. P. Jansen, W. O. Renier, G. de Vaan, P. Reekers, D. M. Vingerhoets, F. J. M. Gabreëls

Journal:

European Journal of Pediatrics

Year:

1987

Language:

english

File:

PDF, 389 KB

english, 1987

69

Dermoïdcyste op het hoofd; denk aan cerebrale uitbreiding

A. M. Yska, A. Verrips, Y. Niño, F. J. M. Gabreëls

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2001

Language:

dutch

File:

PDF, 96 KB

dutch, 2001

70

Regulation and expression of the murinePmp22gene

Rudi A.C. van de Wetering, Anneke A.W.M. Gabreëls-Festen, Hannie Kremer, Vera M. Kalscheuer, Fons J.M. Gabreëls, Edwin C. Mariman

Journal:

Mammalian Genome

Year:

1999

Language:

english

File:

PDF, 794 KB

english, 1999

71

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

C. O. Hanemann, Anneke A. W. M. Gabreëls-Festen, Guido Stoll, Hans W. Müller

Journal:

Acta Neuropathologica

Year:

1997

Language:

english

File:

PDF, 239 KB

english, 1997

72

Infantile motor neuron disease with autonomic dysfunction and bunina bodies

B. A. Semmekrot, P. Wesseling, J. F. M. Bruinenberg, F. M. Gabreëls, H. ter Laak, R. C. A. Sengers

Journal:

Acta Neuropathologica

Year:

1997

Language:

english

File:

PDF, 584 KB

english, 1997

73

Familial inclusion body myositis with histologically confirmed sensorimotor axonal neuropathy

G.J.D. Hengstmann, B.G.M. van Engelen, H.J. ter Laak, A.A.W.M. Gabreëls-Festen

Journal:

Journal of Neurology

Year:

2000

Language:

english

File:

PDF, 195 KB

english, 2000

74

Botulinum toxin A: a new option for treatment of drooling in children with cerebral palsy. Presentation of a case series

Peter H. Jongerius, Jan J. Rotteveel, Frank van den Hoogen, Frank Joosten, Karen van Hulst, Fons J. M. Gabreëls

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

75

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

A. Verrips, Gerry C. H. Steenbergen-Spanjers, J. A. F. M. Luyten, L. P. W. J. van den Heuvel, Antoine Keyser, Fons J. M. Gabreëls, Ron A. Wevers

Journal:

Year:

1996

Language:

english

File:

PDF, 71 KB

english, 1996

76

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

A. Verrips, Gerry C. H. Steenbergen-Spanjers, J. A. F. M. Luyten, R. A. Wevers, John H. J. Wokke, Fons J. M. Gabreëls, Bert G. Wolthers, Lambert P. W. J. van den Heuvel

Journal:

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

77

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia

M. J. van Belzen, Johan A. P. Hiel, Corry M. R. Weemaes, F. J. M. Gabreëls, Baziel G. M. van Engelen, Dominique F. C. M. Smeets, L. P. W. J. van den Heuvel

Journal:

Year:

1998

Language:

english

File:

PDF, 126 KB

english, 1998

78

Fragmented Visuospatial Processing in Children with Pervasive Developmental Disorder

Wim A. J. M. Schlooz, Wouter Hulstijn, Pieter J. A. van den Broek, Angela C. A. M. van der Pijll, Fons Gabreëls, Rutger J. van der Gaag, Jan J. Rotteveel

Journal:

Journal of Autism and Developmental Disorders

Year:

2006

Language:

english

File:

PDF, 262 KB

english, 2006

79

Immunoglobulin treatment in epilepsy, a review of the literature

Baziel G.M. van Engelen, Willy O. Renier, Corry M.R. Weemaes, Fons J.M. Gabreels, Harry Meinardi

Journal:

Epilepsy Research

Year:

1994

Language:

english

File:

PDF, 1.02 MB

english, 1994

80

Vapor-Phase Hydration of Submicrometer CaO Particles

DARIO BERUTO, LUIGI BARCO, GABREELE BELLERI, ALAN W. SEARCY

Journal:

Journal of the American Ceramic Society

Year:

1981

Language:

english

File:

PDF, 1.42 MB

english, 1981

81

Neurodevelopment in offspring-of hairdressers

Wendy M Kersemaekers, Nel Roeleveld, Gerhard AZielhuis PhD, Fons JM Gabreëls

Journal:

Developmental Medicine & Child Neurology

Year:

1997

File:

PDF, 558 KB

1997

82

new motor performance test in a prospective study on children with suspected myopathy

Willeke A Van Den Beld, Gitty A C Van Der Sanden, Ton Feuth, Anjo J W, Rob C A Sengers, André L M Verbeek, Fons J M Gabreëls

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 121 KB

english, 2006

83

Antihypertensive treatment during pregnancy and functional development at primary school age in a historical cohort study

PCM Pasker-de Jong, GA Zielhuis, MMHJ van Gelder, A Pellegrino, FJM Gabreëls, TKAB Eskes

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

2010

Language:

english

File:

PDF, 99 KB

english, 2010

84

MUTATION-DEPENDENT ALTERATION IN CELLULAR DISTRIBUTION OF PERIPHERAL MYELIN PROTEIN 22 IN NERVE BIOPSIES FROM CHARCOT-MARIE-TOOTH TYPE 1A

Co Hanemann, D D'urso, Aawm Gabreels-Festen, Hw Muller

Journal:

Journal of the Peripheral Nervous System

Year:

2000

Language:

english

File:

PDF, 179 KB

english, 2000

85

Human Nerve Pathology Caused by Different Mutational Mechanisms of the PMP22 Gene

ANNEKE GABREËLS-FESTEN, RUDI VAN DE WETERING

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 750 KB

1999

86

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

Valentijn, Linda J., Baas, Frank, Wolterman, Ruud A., Hoogendijk, Jessica E., van den Bosch, Norbert H.A., Zorn, Ina, Gabreëls-Festen, Anneke A.W.M., de Visser, Marianne, Bolhuis, Pieter A.

Journal:

Nature Genetics

Year:

1992

File:

PDF, 423 KB

1992

87

Molecular genetic analysis of human folate receptors in neural tube defects

Heil, Sandra G, van der Put, Nathalie MJ, Trijbels, Frans JM, Gabreëls, Fons JM, Blom, Henk J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

88

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome

Tranebjærg, Lisbeth, Hamel, Ben CJ, Gabreels, Fons JM, Renier, Willy O, Ghelue, Marijke Van

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 164 KB

english, 2000

89

The Treatment of Drooling by Ultrasound-Guided Intraglandular Injections of Botulinum Toxin Type A Into the Salivary Glands

Peter H. Jongerius, Frank Joosten, Frank J. A. Hoogen, Fons J. M. Gabreels, Jan J. Rotteveel

Journal:

The Laryngoscope

Year:

2003

Language:

english

File:

PDF, 327 KB

english, 2003

90

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)

R. A. Wevers, J. F. de Rijk-van Andel, C. Bräutigam, B. Geurtz, L. P. W. J. van den Heuvel, G. C. H. Steenbergen-Spanjers, J. A. M. Smeitink, G. F. Hoffmann, F. J. M. Gabreëls

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 96 KB

english, 1999

91

Differential expression of the neuroendocrine polypeptide 7B2 in hypothalami of Prader-(Labhart)-Willi syndrome patients

B.A.Th.F. Gabreëls, D.F. Swaab, N.G. Seidah, H.L.P. van Duijnhoven, G.J.M. Martens, F.W. van Leeuwen

Journal:

Year:

1994

Language:

english

File:

PDF, 2.08 MB

english, 1994

92

The control of multi-joint movements relies on detailed internal representations

Gerrit Jan van Ingen Schenau, Arthur J. van Soest, Fons J.M. Gabreëls, Martin W.I.M. Horstink

Journal:

Human Movement Science

Year:

1995

Language:

english

File:

PDF, 2.04 MB

english, 1995

93

Comparison of 3 instruments to measure muscle strength in children: A prospective study

Willeke A. Van den Beld, Gitty A.C. Van der Sanden, Anjo J.W.M. Janssen, Rob C.A. Sengers, André L.M. Verbeek, Fons J.M. Gabreëls

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 188 KB

english, 2011

94

020 Disappearance of Sydenham's chorea and a caudate nucleus lesion after treatment with methylprednisolone

A. Verrips, T. Fiselier, H.O.M. Thijssen, F.J.M. Gabreëls

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 122 KB

english, 1999

95

022 Cerebellar involvement with mutism as a rare complication of pneumococcal meningitis

A. Verrips, G. Drost, H.O.M. Thijssen, F.J.M. Gabreëls

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 136 KB

english, 1999

96

021 Morbus Scheie presenting as myopathy

A. Verrips, B.G.M. Van Engelen, H. Ter Laak, P. Wesseling, J. e Jong, F.J.M. Gabreëls

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 132 KB

english, 1999

97

011 Phenotypic variation in merosin-positive congenital muscular dystrophy with cerebellar atrophy: No radiological-clinical correlation

F.A. Rooyer, F.J.M. Gabreëls, A. Verrips, Q.H. Leyten, H.J. Ter Laak

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 131 KB

english, 1999

98

Interstitial 6q deletion with a Prader--Willi-like phenotype: a new case and review of the literature

H. Jacobus Gilhuis, Conny Ma van Ravenswaaij, Ben J.C. Hamel, Fons J.M. Gabreëls

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 252 KB

english, 2000

99

AN X-LINKED SYNDROME WITH MICROCEPHALY, SEVERE MENTAL RETARDATION, SPASTICITY, EPILEPSY AND DEAFNESS

W. O. Renier, F. J. M. Gabreëls, H. H. J. Jasper, T. W. J. Hustinx, J. A. G. Geelen, U. J. G. van Haelst

Journal:

Journal of Intellectual Disability Research

Year:

1982

Language:

english

File:

PDF, 2.99 MB

english, 1982

100

THE MARTIN-BELL SYNDROME: A PSYCHOLOGICAL, LOGOPAEDIC AND CYTOGENETIC STUDY OF TWO AFFECTED BROTHERS

W. O. Renier, D. F. C. M. Smeets, J. M. J. C. Scheres, T. W. J. Hustinx, C. F. C. Hulsmans, C. P. M. O. Ophey, A. J. A. M. Bomers, F. J. M. Gabreëls

Journal:

Journal of Intellectual Disability Research

Year:

1983

Language:

english

File:

PDF, 439 KB

english, 1983